Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the lit...
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Gespeichert in:

Autor*in:	Chiara Mameli [verfasserIn] Arianna Sangiorgio [verfasserIn] Valeria Colombo [verfasserIn] Mirko Gambino [verfasserIn] Luigina Spaccini [verfasserIn] Elisa Cattaneo [verfasserIn] Gian Vincenzo Zuccotti [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	rickets hypophosphatemia children fibroblast growth factor 23 gene

Übergeordnetes Werk:	In: International Journal of Environmental Research and Public Health - MDPI AG, 2005, 18(2021), 8771, p 8771
Übergeordnetes Werk:	volume:18 ; year:2021 ; number:8771, p 8771

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.3390/ijerph18168771

Katalog-ID:	DOAJ004013638

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520			\|a Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age.
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allfields	10.3390/ijerph18168771 doi (DE-627)DOAJ004013638 (DE-599)DOAJ17462cd63d374b2086aa64ea5ef0dc11 DE-627 ger DE-627 rakwb eng Chiara Mameli verfasserin aut Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age. rickets hypophosphatemia children fibroblast growth factor 23 gene Medicine R Arianna Sangiorgio verfasserin aut Valeria Colombo verfasserin aut Mirko Gambino verfasserin aut Luigina Spaccini verfasserin aut Elisa Cattaneo verfasserin aut Gian Vincenzo Zuccotti verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 18(2021), 8771, p 8771 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:18 year:2021 number:8771, p 8771 https://doi.org/10.3390/ijerph18168771 kostenfrei https://doaj.org/article/17462cd63d374b2086aa64ea5ef0dc11 kostenfrei https://www.mdpi.com/1660-4601/18/16/8771 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 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 18 2021 8771, p 8771
spelling	10.3390/ijerph18168771 doi (DE-627)DOAJ004013638 (DE-599)DOAJ17462cd63d374b2086aa64ea5ef0dc11 DE-627 ger DE-627 rakwb eng Chiara Mameli verfasserin aut Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age. rickets hypophosphatemia children fibroblast growth factor 23 gene Medicine R Arianna Sangiorgio verfasserin aut Valeria Colombo verfasserin aut Mirko Gambino verfasserin aut Luigina Spaccini verfasserin aut Elisa Cattaneo verfasserin aut Gian Vincenzo Zuccotti verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 18(2021), 8771, p 8771 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:18 year:2021 number:8771, p 8771 https://doi.org/10.3390/ijerph18168771 kostenfrei https://doaj.org/article/17462cd63d374b2086aa64ea5ef0dc11 kostenfrei https://www.mdpi.com/1660-4601/18/16/8771 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 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 18 2021 8771, p 8771
allfields_unstemmed	10.3390/ijerph18168771 doi (DE-627)DOAJ004013638 (DE-599)DOAJ17462cd63d374b2086aa64ea5ef0dc11 DE-627 ger DE-627 rakwb eng Chiara Mameli verfasserin aut Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age. rickets hypophosphatemia children fibroblast growth factor 23 gene Medicine R Arianna Sangiorgio verfasserin aut Valeria Colombo verfasserin aut Mirko Gambino verfasserin aut Luigina Spaccini verfasserin aut Elisa Cattaneo verfasserin aut Gian Vincenzo Zuccotti verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 18(2021), 8771, p 8771 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:18 year:2021 number:8771, p 8771 https://doi.org/10.3390/ijerph18168771 kostenfrei https://doaj.org/article/17462cd63d374b2086aa64ea5ef0dc11 kostenfrei https://www.mdpi.com/1660-4601/18/16/8771 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 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 18 2021 8771, p 8771
allfieldsGer	10.3390/ijerph18168771 doi (DE-627)DOAJ004013638 (DE-599)DOAJ17462cd63d374b2086aa64ea5ef0dc11 DE-627 ger DE-627 rakwb eng Chiara Mameli verfasserin aut Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age. rickets hypophosphatemia children fibroblast growth factor 23 gene Medicine R Arianna Sangiorgio verfasserin aut Valeria Colombo verfasserin aut Mirko Gambino verfasserin aut Luigina Spaccini verfasserin aut Elisa Cattaneo verfasserin aut Gian Vincenzo Zuccotti verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 18(2021), 8771, p 8771 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:18 year:2021 number:8771, p 8771 https://doi.org/10.3390/ijerph18168771 kostenfrei https://doaj.org/article/17462cd63d374b2086aa64ea5ef0dc11 kostenfrei https://www.mdpi.com/1660-4601/18/16/8771 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 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 18 2021 8771, p 8771
allfieldsSound	10.3390/ijerph18168771 doi (DE-627)DOAJ004013638 (DE-599)DOAJ17462cd63d374b2086aa64ea5ef0dc11 DE-627 ger DE-627 rakwb eng Chiara Mameli verfasserin aut Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age. rickets hypophosphatemia children fibroblast growth factor 23 gene Medicine R Arianna Sangiorgio verfasserin aut Valeria Colombo verfasserin aut Mirko Gambino verfasserin aut Luigina Spaccini verfasserin aut Elisa Cattaneo verfasserin aut Gian Vincenzo Zuccotti verfasserin aut In International Journal of Environmental Research and Public Health MDPI AG, 2005 18(2021), 8771, p 8771 (DE-627)477992463 (DE-600)2175195-X 16604601 nnns volume:18 year:2021 number:8771, p 8771 https://doi.org/10.3390/ijerph18168771 kostenfrei https://doaj.org/article/17462cd63d374b2086aa64ea5ef0dc11 kostenfrei https://www.mdpi.com/1660-4601/18/16/8771 kostenfrei https://doaj.org/toc/1661-7827 Journal toc kostenfrei https://doaj.org/toc/1660-4601 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ 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_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_2153 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 18 2021 8771, p 8771
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author	Chiara Mameli
spellingShingle	Chiara Mameli misc rickets misc hypophosphatemia misc children misc fibroblast growth factor 23 gene misc Medicine misc R Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
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topic_title	Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature rickets hypophosphatemia children fibroblast growth factor 23 gene
topic	misc rickets misc hypophosphatemia misc children misc fibroblast growth factor 23 gene misc Medicine misc R
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title	Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
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title_sort	autosomal dominant hypophosphatemic rickets: a case report and review of the literature
title_auth	Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
abstract	Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age.
abstractGer	Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age.
abstract_unstemmed	Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length: −4.08 standard deviation (SD), weight: −2.2 SD) and hypotonia. Hypophosphatemia, decreased tubular phosphate reabsorption (69%), and rachitic lesions were found. Genetic analysis showed the heterozygous variant c.536G<A (NM_020638.3:c.536G<A) in exon 3 of the FGF23 gene, leading to the diagnosis of ADHR. She was treated with phosphate salts and oral alfacalcidol. After 4 years of treatment, at 5 years of age, the patient’s ADHR resolved spontaneously. Considering the lack of knowledge regarding ADHR, we reviewed the literature to describe the features of this rare and poorly understood disease. Eleven ADHR pediatric cases have been described thus far, with cases tending to be more common in females than males. Similar to the general population, two groups of patients with ADHR can be described depending on the mutations present: patients with an R179 and R176 mutation have early-onset of disease and higher frequency of rickets, and a milder and late-onset of disease, respectively. Symptoms and disease severity may fluctuate. Spontaneous remission may occur during the pediatric age.
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title_short	Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
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Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

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