Recombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.

ABSTRACT:

Introduction

Gain-of-function mutations in the CASR gene cause Autosomal Dominant Hypocalcemia Type 1 (ADH1), the most common genetic cause of isolated hypoparathyroidism. Subjects have increased calcium sensitivity in the renal tubule, leading to increased urinary calcium excretion, nephrocalcinosis and nephrolithiasis when compared with other causes of hypoparathyroidism. The traditional approach to treatment includes activated vitamin D but this further increases urinary calcium excretion.

Methods

In this case series, we describe the use of recombinant human parathyroid hormone (rhPTH)1-84 to treat subjects with ADH1, with improved control of serum and urinary calcium levels.

Results

We describe two children and one adult with ADH1 due to heterozygous CASR mutation

SUBMITTER: Hawkes CP 

PROVIDER: S-EPMC7853300 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature