Growth hormone therapy in HHRH.

ABSTRACT:

Background

Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) (SLC34A3 gene, OMIM 241530) is an autosomal recessive disorder that results in a loss of function of the sodium-phosphate NPT2c channel at the proximal tubule. Phosphate supplementation rarely improves serum phosphate, hypercalciuria, nephrocalcinosis, 1,25(OH)₂ vitamin D (1,25(OH)₂D) levels or short stature.

Methods

We describe ²³Na MRI and the successful use of recombinant human growth hormone (rhGH) and Fluconazole to improve growth (possibly confounded by puberty) and hypercalciuria in a now 12-year-old male with HHRH (novel homozygous SLC34A3 mutation, c.835_846 + 10del.T).

Results

The patient had chronic bone pain, hypophosphatemia (0.65 mmol/

SUBMITTER: Filler G 

PROVIDER: S-EPMC9156862 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature