The International Journal of Romanian Society of Endocrinology / Registered in 1938

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July - September 2022, Volume 18, Issue 3
Case Report

Karakilic-Ozturan E, Ozturk AP, Oney K, Kardelen Al AD, Yildirim ZY, Balci HI., Poyrazoglu S, Bas F, Darendeliler F

SLC34A3 Gene Mutation as a Rare Cause of Hypophosphatemia in Two Siblings

Acta Endo (Buc) 2022, 18 (3): 387-391
doi: 10.4183/aeb.2022.387

Context. Hereditary 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. Objective. Here we report different clinical features of two siblings with HHRH, confirmed with molecular diagnosis. Subjects and methods. 16.4 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. Results. P1 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 Conclusion. The 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.

Keywords: Hypophosphatemia, Rickets, Hypercalciuria, SLC34A3 gene.

Correspondence: Esin Karakilic-Ozturan, MD, Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Istanbul, Turkey, E-mail: