Pseudo Gitelman Syndrome Associated With Pregnancy.

Abstract

BACKGROUND:

Gitelman syndrome is a rare inherited renal tubulopathy associated with metabolic alkalosis and electrolyte disorders. Pseudo Gitelman syndrome presents with the same clinical characteristics as Gitelman syndrome, yet without genetic mutations in SLC12A3.

CASE:

A 32-year-old woman with no remarkable medical and family history developed hypokalemia at 32 weeks of gestation. Laboratory findings were consistent with Gitelman syndrome and potassium supplementation was initiated. The patient delivered a healthy neonate at 40 weeks of gestation and the electrolyte disorders drastically improved. After delivery, genomic analysis revealed no evidence of mutations in SLC12A3, and pseudo Gitelman syndrome was finally diagnosed.

CONCLUSION:

Pseudo Gitelman syndrome, presenting with Gitelman syndrome-like renal tubulopathy without mutations in SLC12A3, can cause a temporary electrolyte imbalance based on the physiologic changes of pregnancy. Although pregnant women with isolated hypokalemia need not be evaluated for Gitelman or pseudo Gitelman syndrome, if it is accompanied by metabolic alkalosis, hypocalciuria, hypomagnesia, and activation of the renin-angiotensin-aldosterone system without hypertension, this evaluation should be considered.

• Authors: Masato Yoshihara, Akira Sayo, Michinori Mayama, Hidenori Oguchi
• Journal: Obstetrics and gynecology (Obstet Gynecol) Vol. 126 Issue 4 Pg. 877-880 (Oct 2015) ISSN: 1873-233X [Electronic] United States
• PMID: 25923028 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Female
• Gitelman Syndrome (diagnosis)
• Humans
• Hypokalemia (etiology)
• Kidney Diseases (complications, diagnosis)
• Pregnancy
• Pregnancy Complications (diagnosis)