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

ABSTRACT:

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. Bilater

SUBMITTER: Karakilic-Ozturan E 

PROVIDER: S-EPMC9867807 | biostudies-literature | 2022 Jul-Sep

REPOSITORIES: biostudies-literature