SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS

• Published in: Acta endocrinologica (Bucharest, Romania : 2005) Vol. 18; no. 3; pp. 387 - 391
• Main Authors: Karakilic-Ozturan, E, Ozturk, A P, Oney, C, Kardelen Al, A D, Yildirim, Z Y, Balci, H I, Poyrazoglu, S, Bas, F, Darendeliler, F
• Format: Report
• Language: English
• Published: 01.07.2022
• ISSN: 1841-0987
• DOI: 10.4183/aeb.2022.387

ContextHereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder, which is characterized by renal phosphate wasting, hypercalciuria, increased 1,25-dihydroxyvitamin D, and decreased parathormone (PTH) levels.ObjectiveHere we report different clinical features of two siblings with HHRH, confirmed with molecular diagnosis.Subjects and methods16.4 years old boy (P1), and 8.7 years old girl (P2) were referred to our outpatient clinic due to clinical suspicion of metabolic bone diseases.ResultsP1 had severe hypophosphatemia. Additionally, PTH concentration was near to the lower limit, 1,25-dihydroxyvitamin-D concentration was near to the upper limit. P2 had relatively milder clinical and laboratory findings. Bilateral renal calculi were detected on ultrasound in both of them. HHRH was suspected due to their described biochemistry and the presence of bilateral renal calculi. Molecular analysis of SLC34A3 gene revealed a homozygous variant c.756G>A (p.Gln252=) and a splice donor variant c.1335+2T>A. After oral phosphate treatment, clinical and biochemical improvements were observed. However treatment nonadherence of patients was a barrier to reach treatment goal.ConclusionThe clinical phenotype due to the same mutation in the SLC34A3 gene may vary even among the members of the same family. An accurate diagnosis is important for the appropriate treatment.