Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Abstract

Hypokalemia of renal origin can arise from genetic abnormalities in a variety of transporters or channel proteins that mediate tubular handling of potassium. Recently, mutations in claudin 10 have been documented in patients with hypokalemia in association with a range of other electrolyte abnormalities and skin and sweat gland manifestations. We report a 12-year-old Hispanic boy who presented with anhydrosis, aptyalism, alacrima, hypokalemia, and hypocalciuria, in whom we detected a homozygous mutation in the claudin 10 gene. During the 4-year follow-up period, he developed hypermagnesemia and a decline in estimated glomerular filtration rate to 59mL/min/1.73m2. His unaffected parents and siblings were heterozygous for the mutation. We summarize the clinical phenotype encountered in patients with claudin 10 mutations. It is characterized by significant heterogeneity in electrolyte and extrarenal abnormalities and is associated with a risk for progressive loss of kidney function in up to 33% of cases. Awareness of this association between claudin 10 mutations and electrolyte abnormalities, namely hypokalemia and hypermagnesemia, sheds new light on the physiology of potassium and magnesium handling along the nephron and increases the likelihood of identifying the underlying tubular mechanism in patients with newly diagnosed hypokalemia with or without concomitant hypermagnesemia.

• Authors: Nicole Meyers, Carol Nelson-Williams, Laura Malaga-Dieguez, Horacio Kaufmann, Erin Loring, James Knight, Richard P Lifton, Howard Trachtman
• Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation (Am J Kidney Dis) Vol. 73 Issue 3 Pg. 425-428 (03 2019) ISSN: 1523-6838 [Electronic] United States
• PMID: 30482581 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)
• Copyright: Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Chemical References

• Claudins
• claudin 10

Topics

• Child
• Claudins (genetics)
• Humans
• Hypokalemia (genetics)
• Male
• Mutation