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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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Autores principales: Mameli, Chiara, Sangiorgio, Arianna, Colombo, Valeria, Gambino, Mirko, Spaccini, Luigina, Cattaneo, Elisa, Zuccotti, Gian Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392413/
https://www.ncbi.nlm.nih.gov/pubmed/34444516
http://dx.doi.org/10.3390/ijerph18168771
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author Mameli, Chiara
Sangiorgio, Arianna
Colombo, Valeria
Gambino, Mirko
Spaccini, Luigina
Cattaneo, Elisa
Zuccotti, Gian Vincenzo
author_facet Mameli, Chiara
Sangiorgio, Arianna
Colombo, Valeria
Gambino, Mirko
Spaccini, Luigina
Cattaneo, Elisa
Zuccotti, Gian Vincenzo
author_sort Mameli, Chiara
collection PubMed
description 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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spelling pubmed-83924132021-08-28 Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature Mameli, Chiara Sangiorgio, Arianna Colombo, Valeria Gambino, Mirko Spaccini, Luigina Cattaneo, Elisa Zuccotti, Gian Vincenzo Int J Environ Res Public Health Case Report 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. MDPI 2021-08-19 /pmc/articles/PMC8392413/ /pubmed/34444516 http://dx.doi.org/10.3390/ijerph18168771 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Mameli, Chiara
Sangiorgio, Arianna
Colombo, Valeria
Gambino, Mirko
Spaccini, Luigina
Cattaneo, Elisa
Zuccotti, Gian Vincenzo
Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
title Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
title_full Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
title_fullStr Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
title_full_unstemmed Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
title_short Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
title_sort autosomal dominant hypophosphatemic rickets: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392413/
https://www.ncbi.nlm.nih.gov/pubmed/34444516
http://dx.doi.org/10.3390/ijerph18168771
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