A case of Gitelman syndrome in a twin pregnancy with a novel mutation

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A case of Gitelman syndrome in a twin pregnancy with a novel mutation

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Co-author 1

Karima Wehbe kw20@aub.edu.lb American University of Beirut Division of Nephrology and Hypertension Beirut Lebanon -

Co-author 2

Lameess Al-Kawam kawamlameess@gmail.com Mayo Clinic Florida Division of Kidney Transplantation Jacksonville United States -

Co-author 3

Abdel Kader Addam aa571@aub.edu.lb American University of Beirut Internal Medicine-Nephrology and Hypertension Beirut Lebanon -

Co-author 4

Ali Abu-Alfa abualfa@aub.edu.lb American University of Beirut Division of Nephrology and Hypertension Beirut Lebanon *

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Introduction

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria.

Methods

This is a case report of a 34‑year‑old pregnant woman (G2P2) with a twin pregnancy who presented at 8 weeks of gestation with continuous nausea, vomiting, generalized fatigue, and severe cramps. Her blood pressure was normal to low. Her potassium level was 1.7 mEq/L and Mg 1.2 mg/dL requiring ICU care for aggressive IV potassium and magnesium replacement. Daily oral 120 mEq KCL was started at discharge, but K and Mg levels remained low.

Results

Work‑up showed high fractional excretions of potassium (33%) and magnesium (4%), and a low fractional excretion of calcium (0.6%). Serum aldosterone and renin levels were elevated: 316 pg/mL and 103 µIU/mL, respectively, with a normal cortisol level of 10 µg/dL. Genetic testing revealed a homozygous variant of uncertain significance in the SLC12A3 gene c.1406C>A (p.Ala469Asp, exon 11 of 26).

Conclusion

To the best of our knowledge, this is a novel mutation in the SLC12A3 gene that has not previously been reported in literature as being associated with Gitelman syndrome. However, the clinical and laboratory findings together strongly suggest the diagnosis of Gitelman syndrome. Pregnancy is known to increase potassium requirements and glomerular filtration rate, with possibly twin pregnancy potentially exacerbating the issue and increasing requirements for potassium. The optimal management remains uncertain with difficulty normalizing potassium level with replacement. Use of amiloride or mineralocorticoid receptor antagonists is controversial as these drugs also fall into pregnancy risk categories B and C. An individualized and multidisciplinary approach is required.

Kewords