Article
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Physiological reports - 1 Jun 2018
Fearn Amy, Allison Benjamin, Rice Sarah J, Edwards Noel, Halbritter Jan, Bourgeois Soline, Pastor-Arroyo Eva M, Hildebrandt Friedhelm, Tasic Velibor, Wagner Carsten A, Hernando Nati, Sayer John A, Werner Andreas
Abstract excerpt
Mutations in SLC34A1, encoding the proximal tubular sodium-phosphate transporter NaPi-IIa, may cause a range of clinical phenotypes including infantile hypercalcemia, a proximal renal Fanconi syndrome, which are typically autosomal recessive, and hypophosphatemic nephrolithiasis, which may be an autosomal dominant trait. Here, we report two patients with mixed clinical phenotypes, both with metabolic acidosis,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.