Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report
Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system....
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Heydorn, Arne [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2023 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s) 2023 |
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| Übergeordnetes Werk: |
Enthalten in: Thyroid research - London : BioMed Central, 2008, 16(2023), 1 vom: 01. Mai |
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| Übergeordnetes Werk: |
volume:16 ; year:2023 ; number:1 ; day:01 ; month:05 |
| Links: |
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| DOI / URN: |
10.1186/s13044-023-00152-w |
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| Katalog-ID: |
SPR050250671 |
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| 520 | |a Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. | ||
| 650 | 4 | |a Thyrotoxic periodic paralysis |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Hypokalemia |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Graves’ disease |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Muscle weakness |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Periodic episodes |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Hyperthyroidism |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Channelopathies |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Bertelsen, Birgitte |4 aut | |
| 700 | 1 | |a Nolsöe, Rúna Louise Mortansdóttir |4 aut | |
| 700 | 1 | |a Eiken, Pia |4 aut | |
| 700 | 1 | |a Kristensen, Peter Lommer |4 aut | |
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10.1186/s13044-023-00152-w doi (DE-627)SPR050250671 (SPR)s13044-023-00152-w-e DE-627 ger DE-627 rakwb eng Heydorn, Arne verfasserin aut Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. Thyrotoxic periodic paralysis (dpeaa)DE-He213 Hypokalemia (dpeaa)DE-He213 Graves’ disease (dpeaa)DE-He213 Muscle weakness (dpeaa)DE-He213 Periodic episodes (dpeaa)DE-He213 Hyperthyroidism (dpeaa)DE-He213 Channelopathies (dpeaa)DE-He213 Bertelsen, Birgitte aut Nolsöe, Rúna Louise Mortansdóttir aut Eiken, Pia aut Kristensen, Peter Lommer aut Enthalten in Thyroid research London : BioMed Central, 2008 16(2023), 1 vom: 01. Mai (DE-627)581030710 (DE-600)2454440-1 1756-6614 nnns volume:16 year:2023 number:1 day:01 month:05 https://dx.doi.org/10.1186/s13044-023-00152-w kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 01 05 |
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10.1186/s13044-023-00152-w doi (DE-627)SPR050250671 (SPR)s13044-023-00152-w-e DE-627 ger DE-627 rakwb eng Heydorn, Arne verfasserin aut Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. Thyrotoxic periodic paralysis (dpeaa)DE-He213 Hypokalemia (dpeaa)DE-He213 Graves’ disease (dpeaa)DE-He213 Muscle weakness (dpeaa)DE-He213 Periodic episodes (dpeaa)DE-He213 Hyperthyroidism (dpeaa)DE-He213 Channelopathies (dpeaa)DE-He213 Bertelsen, Birgitte aut Nolsöe, Rúna Louise Mortansdóttir aut Eiken, Pia aut Kristensen, Peter Lommer aut Enthalten in Thyroid research London : BioMed Central, 2008 16(2023), 1 vom: 01. Mai (DE-627)581030710 (DE-600)2454440-1 1756-6614 nnns volume:16 year:2023 number:1 day:01 month:05 https://dx.doi.org/10.1186/s13044-023-00152-w kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 01 05 |
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10.1186/s13044-023-00152-w doi (DE-627)SPR050250671 (SPR)s13044-023-00152-w-e DE-627 ger DE-627 rakwb eng Heydorn, Arne verfasserin aut Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. Thyrotoxic periodic paralysis (dpeaa)DE-He213 Hypokalemia (dpeaa)DE-He213 Graves’ disease (dpeaa)DE-He213 Muscle weakness (dpeaa)DE-He213 Periodic episodes (dpeaa)DE-He213 Hyperthyroidism (dpeaa)DE-He213 Channelopathies (dpeaa)DE-He213 Bertelsen, Birgitte aut Nolsöe, Rúna Louise Mortansdóttir aut Eiken, Pia aut Kristensen, Peter Lommer aut Enthalten in Thyroid research London : BioMed Central, 2008 16(2023), 1 vom: 01. Mai (DE-627)581030710 (DE-600)2454440-1 1756-6614 nnns volume:16 year:2023 number:1 day:01 month:05 https://dx.doi.org/10.1186/s13044-023-00152-w kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 01 05 |
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10.1186/s13044-023-00152-w doi (DE-627)SPR050250671 (SPR)s13044-023-00152-w-e DE-627 ger DE-627 rakwb eng Heydorn, Arne verfasserin aut Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. Thyrotoxic periodic paralysis (dpeaa)DE-He213 Hypokalemia (dpeaa)DE-He213 Graves’ disease (dpeaa)DE-He213 Muscle weakness (dpeaa)DE-He213 Periodic episodes (dpeaa)DE-He213 Hyperthyroidism (dpeaa)DE-He213 Channelopathies (dpeaa)DE-He213 Bertelsen, Birgitte aut Nolsöe, Rúna Louise Mortansdóttir aut Eiken, Pia aut Kristensen, Peter Lommer aut Enthalten in Thyroid research London : BioMed Central, 2008 16(2023), 1 vom: 01. Mai (DE-627)581030710 (DE-600)2454440-1 1756-6614 nnns volume:16 year:2023 number:1 day:01 month:05 https://dx.doi.org/10.1186/s13044-023-00152-w kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 01 05 |
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10.1186/s13044-023-00152-w doi (DE-627)SPR050250671 (SPR)s13044-023-00152-w-e DE-627 ger DE-627 rakwb eng Heydorn, Arne verfasserin aut Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. Thyrotoxic periodic paralysis (dpeaa)DE-He213 Hypokalemia (dpeaa)DE-He213 Graves’ disease (dpeaa)DE-He213 Muscle weakness (dpeaa)DE-He213 Periodic episodes (dpeaa)DE-He213 Hyperthyroidism (dpeaa)DE-He213 Channelopathies (dpeaa)DE-He213 Bertelsen, Birgitte aut Nolsöe, Rúna Louise Mortansdóttir aut Eiken, Pia aut Kristensen, Peter Lommer aut Enthalten in Thyroid research London : BioMed Central, 2008 16(2023), 1 vom: 01. Mai (DE-627)581030710 (DE-600)2454440-1 1756-6614 nnns volume:16 year:2023 number:1 day:01 month:05 https://dx.doi.org/10.1186/s13044-023-00152-w kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 01 05 |
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Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report Thyrotoxic periodic paralysis (dpeaa)DE-He213 Hypokalemia (dpeaa)DE-He213 Graves’ disease (dpeaa)DE-He213 Muscle weakness (dpeaa)DE-He213 Periodic episodes (dpeaa)DE-He213 Hyperthyroidism (dpeaa)DE-He213 Channelopathies (dpeaa)DE-He213 |
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Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report |
| abstract |
Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. © The Author(s) 2023 |
| abstractGer |
Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. © The Author(s) 2023 |
| abstract_unstemmed |
Background Thyrotoxic periodic paralysis (TPP) is a rare condition characterized by muscle paralysis, thyrotoxicosis, and hypokalemia. It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. Genetic testing using whole-genome sequencing found no genetic variants in genes previously associated with TPP. Conclusion TPP is very rare in Caucasians but more often affects young men in East Asian populations. The case presents a Caucasian man with TPP where genetic testing of CACNA1S, KCNJ18, SCN4A, KCNJ2, KCNE3, and ABCC8 shows no pathogenic variants in genes previously associated with TPP. © The Author(s) 2023 |
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Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report |
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https://dx.doi.org/10.1186/s13044-023-00152-w |
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Bertelsen, Birgitte Nolsöe, Rúna Louise Mortansdóttir Eiken, Pia Kristensen, Peter Lommer |
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10.1186/s13044-023-00152-w |
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It presents with paralysis of both proximal and distal musculature in upper and lower limbs and may affect respiratory musculature and the cardiac conduction system. Early diagnosis is essential, as the condition is potentially reversible by oral or intravenous potassium treatment, leading to rapid resolution without lasting weakness. Overlooking the diagnosis may result in respiratory failure and cardiac arrhythmias including QT prolongation, Torsades de points, and ventricular arrhythmias. Case presentation A 19-year-old Caucasian man was admitted acutely with paralysis in upper and lower limbs and tachycardia. Over several months, he had experienced anxiousness, sweating more than usual, had daily palpitations, shortness of breath on exertion, and loose stools, and had lost 21 kg over the last year. Initial blood gas showed very low potassium of 1.4 mM, and blood tests showed decreased Thyroid-stimulating hormone (TSH) < 0.01 × $ 10^{− 3} $ IU/L, elevated free thyroxine (fT4) of 63.5 pM (reference interval (RI): 12.0–22.0 pM), and elevated total triiodothyronine (T3) of 8.2 nM (RI: 1.0–2.6 nM). He was diagnosed with TPP and treated with liquid oral potassium chloride (30 mmol every 30 minutes) and propylthiouracil (initial dose of 400 mg followed by 200 mg three times daily). TSH-receptor antibodies (TRAB) and thyroid-peroxidase antibodies (TPO-ab) were highly elevated. Thyroid ultrasound showed a normal-sized gland and color Doppler sonography showed increased vascularity throughout the gland, compatible with Graves’ disease. He was discharged on day 4 with a normal potassium level and followed in the outpatient clinic where he received standard care for Graves’ disease. 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