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Nephrocalcinosis: case report A female child [exact age at reaction onset not stated] developed nephrocalcinosis during treatment with calcium and calcitriol for 25-hydroxyvitamin D-1α-hydroxylase deficiency (vitamin D‑dependent rickets type IA). The girl, who grew poorly with delayed motor skills and sitting unsupported at the age of 10 months, developed a lower limb "O" shaped deformity at the age of 14 months. At the age of 18 months, she presented with hypocalcaemic seizures. She had tibial bowing, pigeon breast and widened metaphyses of the wrists and ankles. She presented with failure to thrive, muscle weakness and typical phenotypic features of rickets in early childhood. Further examinations showed hypocalcaemia, hypophosphataemia and low serum 25-dihydroxyvitamin D (1,25-(OH)2D3) level. X-ray showed typical signs of rickets with widened metaphysic. Based on her clinical and biochemical features, a diagnosis of 25-hydroxyvitamin D-1α-hydroxylase deficiency (vitamin D‑dependent rickets type IA) was made. She was started on oral calcitriol 0.25µg daily and oral calcium 500mg daily, divided three times a day for 15 months. Following a month of therapy, serum phosphorus became normal with a significant reduction of serum parathyroid hormone, however, the hypocalcaemia remains. As a result, calcitriol was increased to 0.75µg daily and calcium to 700mg daily, divided three times per day. Following treatment of 3 months, her calcium levels normalised. Over the next month parathyroid hormone became normal. She became taller and heavier than before. At the age of 33 months, genetic sequence identified her as homozygous for a duplication mutation in exon 8 of CYP27B1 gene (c.1319_1325dupCCC ACC C, p.Phe443Profs * 24). Wrist radiograph revealed reoccurrence of the zone of provisional calcification in distal metaphysis, an improvement in bone trabecula and thickening of the cortical. At that time her treatment was calcitriol was 1 µg/day (0.08 µg/kg/day) and calcium 900 mg/day (78 mg/kg/day), divided three times a day. Thereafter, during follow-up (after 2 years from the initiation of treatment), kidney ultrasonography revealed calcareous deposit. Therefore, she was considered to have developed nephrocalcinosis secondary to calcium and calcitriol [time to reaction onset and outcome not stated]. Li Y, et al. Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up. Orphanet Journal of Rare Diseases 15 (Suppl. 1): 803519130 2020. Available from: URL: http://doi.org/10.1186/s13023-020-01558-7

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Reactions 5 Dec 2020 No. 1833