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

Chiara Mameli, Arianna Sangiorgio, Valeria Colombo, Mirko Gambino, Luigina Spaccini, Elisa Cattaneo and Gian Vincenzo Zuccotti
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Chiara Mameli: Department of Pediatrics, V. Buzzi Children’s Hospital, Università di Milano, Via Lodovico Castelvetro, 32, 20154 Milan, Italy
Arianna Sangiorgio: Department of Pediatrics, V. Buzzi Children’s Hospital, Università di Milano, Via Lodovico Castelvetro, 32, 20154 Milan, Italy
Valeria Colombo: Department of Pediatrics, V. Buzzi Children’s Hospital, Università di Milano, Via Lodovico Castelvetro, 32, 20154 Milan, Italy
Mirko Gambino: Department of Pediatrics, V. Buzzi Children’s Hospital, Università di Milano, Via Lodovico Castelvetro, 32, 20154 Milan, Italy
Luigina Spaccini: Clinical Genetics Service, V. Buzzi Children’s Hospital, Università di Milano, Via Lodovico Castelvetro, 32, 20154 Milan, Italy
Elisa Cattaneo: Clinical Genetics Service, V. Buzzi Children’s Hospital, Università di Milano, Via Lodovico Castelvetro, 32, 20154 Milan, Italy
Gian Vincenzo Zuccotti: Department of Pediatrics, V. Buzzi Children’s Hospital, Università di Milano, Via Lodovico Castelvetro, 32, 20154 Milan, Italy

IJERPH, 2021, vol. 18, issue 16, 1-10

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.

Keywords: rickets; hypophosphatemia; children; fibroblast growth factor 23 gene (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2021
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