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Article

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.

The American journal of the medical sciences - 1 Oct 2015

Stiburkova Blanka, Stekrova Jitka, Nakamura Makiko, Ichida Kimiyoshi

Abstract excerpt

BACKGROUND: Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury. Type 1 is caused by a mutation in the SLC22A12 gene (URAT1) and type 2 in the SLC2A9 gene (GLUT9). In this article, the authors present a coexpression functional characterization of variants responsible for RHUC type 1 in a...

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Source

Identifiers

PMID: 26418379
DOI: 10.1097/MAJ.0000000000000550

Genes

PKD1
PKD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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