Skip to main content
. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Pflugers Arch. 2014 Feb 11;466(8):1501–1516. doi: 10.1007/s00424-014-1448-8

Table 1.

Inherited Causes of Isolated pRTA with Asssociated Extrarenal Abnormalities

Gene Protein Inheritance Renal Phenotype Extra-Renal Phenotype
CA2 CAII autosomal recessive pRTA, dRTA, hypokalemia osteopetrosis involving skull, axial skeleton, and long bones with widening of metaphyses; growth defect; intracerebral calcification
1SLC4A4 NBCe1 autosomal recessive pRTA, hypokalemia band keratopathy; glaucoma; cataracts; elevated serum amylase and lipase and enamel defects; intracerebral calcification; decreased IQ; growth defect
Unknown gene(s) unknown autosomal dominant pRTA colomboma; sub-aortic stenosis; decreased radial bone density; thinner iliac cortices; growth defect
1

Headaches occur in patients with the R510H, L522P, and R881C missense mutations, 2311delA, and a homozygous C-terminal 65 bp-del. In heterozygous patients with the 65 bp-del and the L522P mutations headaches also occur and have been attributed to a dominant-negative effect.