DOI: 10.36347/sjmcr.2018.v06i02.008

Pages: 91-93

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare type of hypophosphatemic rickets characterized by renal phosphate wasting and hypophosphatemia. The genetic analysis revealed with mutation in fibroblast growth factor 23 (FGF23) and it is elevated in several diseases in hypophosphatemia and rickets. The present case study reports a proband of 18 year old male and his mother with ADHR and was examined for mutational analysis in FGF23 gene. The clinical characteristics and biochemical data were analyzed in the proband and the mother. They both had a short stature and a low level of 1,25dihydroxyvitamin D3, elevated alkaline phosphate and a normal serum calcium. The FGF23 level was analyzed using ELISA and it was found out to be elevated in both the patients. The mutational analysis was performed using PCR-RFLP technique. The results were revealed with a heterogenous c.527G>A (p.R176Q) in exon 3 of FGF23 gene in mother as well as in her son. Hence, to the best of our knowledge, this is the first report in India especially in Tamil Nadu with ADHR and it is a necessary measure to investigate the detailed mechanism involving FGF23 in phosphate wasting diseases.