Work

WCN26-3079 Refractory Electrolyte Disorders in Pregnancy Revealing Gittleman Syndrome

Year: 2026

Type: article

Abstract: Electrolyte disturbances such as hypokalemia and hypomagnesemia are common in pregnancy and often attributed to vomiting, diet, or medication. However, pregnancy’s physiologic changes can unmask inherited tubulopathies. Gitelman syndrome (GS), caused by biallelic SLC12A3 variants affecting the thiazide-sensitive NaCl cotransporter in the distal convoluted tubule, typically presents with hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Distinguishing GS from acquired causes (e.g., Tenofovir disoproxil fumarate (TDF)-associated proximal tubulopathy) is critical, as the diagnoses imply different maternal-fetal risks, genetic counseling considerations, and management strategies.

Source: Kidney International Reports

DOI: 10.1016/j.ekir.2026.105415

Authors: Stefanie Worwa, Andrea G. Kattah, Angie S. Lobo

Institutions: University of Minnesota, Mayo Clinic

Language: English

Topic: Ion Transport and Channel Regulation

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,800