Clinical and laboratory features of female Gitelman syndrome and the pregnancy outcomes in a Chinese cohort

Abstract

Aim Gitelman syndrome (GS) is a rare inherited salt‐losing renal tubulopathy. Data on clinical features and the pregnancy outcome for female GS patients in a large cohort are lacking. The study was aimed to explore the phenotype and pregnant issue for female GS patients. Methods GS cases from the National Rare Diseases Registry System of China (NRSC) were collected, and detailed clinical, laboratory and genetic data were analysed. Articles on pregnancy in GS were also systemically reviewed. Results A total of 101 GS patients were included; among them, 42.6% were female and 79.2% showed hypomagnesaemia. A lower proportion of female patients presented before 18 years of age, with less frequently reported polyuria, higher serum potassium and less urine sodium and chloride excretions. There was no gender difference in the sodium‐chloride cotransporter (NCC) dysfunction evaluated by hydrochlorothiazide test. Twelve of the 43 female GS patients delivered after disease symptom onset, and their pregnancies were generally uneventful. As a group, pregnant GS patients had lower potassium levels in the first‐trimester (P = .002) requiring higher potassium supplementation. After delivery, serum potassium (P = .02) and magnesium (P = .03) increased significantly. Both caesarean section and vaginal delivery were safe. Conclusion Female GS patients may have a less severe phenotype with generally favourable outcomes of pregnancy. Intensive monitoring and increased potassium supplementation are necessary during pregnancy, especially in the first‐trimester.

Anesthetic Considerations for Cesarean Delivery in a Parturient With Severe Gitelman Syndrome

“…Although GS in pregnancy is reported, severe cases requiring continuous intravenous electrolyte repletion are rare, with little guidance regarding anesthesia care [5,[7][8]. In a recently published cohort study of 43 patients, only three required IV electrolyte supplementation [3]. While parturients in this cohort had relatively mild disease and subsequent uneventful pregnancies, adverse maternal and fetal outcomes among GS patients have been reported.…”

“…While GS has wide phenotypic variation, common symptoms include muscle cramping, orthostatic hypotension, palpitations, weakness, and fatigue [3]. Management includes liberal salt intake as well as potassium and magnesium supplementation.…”

“…Management includes liberal salt intake as well as potassium and magnesium supplementation. In pregnancy, expansion of extracellular volume, upregulation of the renin-angiotensin-aldosterone system, and increased renal clearance often necessitate upward titration of electrolyte supplementation [3,4].…”

“…Published data on the obstetric anesthetic management of GS is limited mostly to case reports of patients with mild disease [3,5]. We aim to increase knowledge and awareness of this rare condition and provide clinical considerations for safe cesarean delivery (CD).…”

Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians

“…A recent study demonstrated an efficacy greater than 85% in finding the causal BS mutations [ 76 ]. For GS, the diagnostic efficacy is lower, around 62% [ 5 , 136 , 137 , 138 , 139 ], and a considerable number of clinical-diagnosed patients carries only one mutation (around 25%) [ 136 , 137 , 138 , 139 ]. In both scenarios, it is recommended to carry out a study of carriers of the variants identified in the parents, in order to determine that each variant is located in different copies of the gene.…”