Gitelman syndrome-associated severe hypokalemia and hypomagnesemia: case report and review of the literature

Marinopoulos, Spyridon S; Mousiolis, Athanasios; Mesogitis, S.; Papantoniou, Nikolaos; Antsaklis, Aris

doi:10.3109/14767051003678010

Cited by 27 publications

(29 citation statements)

References 9 publications

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“…In addition to the 12 women and their 13 neonates included in our cohort, there were 43 reported pregnancies in 31 GS women with 36 neonates (case report or case series), 7,9‐29 for a total of 43 patients and 49 neonates.…”

Section: Resultsmentioning

confidence: 99%

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

et al. 2020

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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.

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Section: Resultsmentioning

confidence: 99%

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

et al. 2020

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“…The most common fetal complication seen in the case reports we reviewed was oligohydramnios, which could be related to the salt wasting seen in GS and the inability to maintain extracellular fluid volume [9, 10, 17]. McCarthy and colleagues recommend that in addition to monitoring serum electrolyte levels, determining maternal weight and volume status is imperative as well [10].…”

Section: Discussionmentioning

confidence: 99%

Hyperemesis Gravidarum in Undiagnosed Gitelman’s Syndrome

Acelajado

Culpepper

Bolton

2016

Case Reports in Medicine

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Introduction. Gitelman's syndrome (GS) is an autosomal recessive inherited defect in the thiazide-sensitive sodium-chloride cotransporter (NCCT) in the renal distal convoluted tubule. Physiologic changes of pregnancy promote renal potassium wasting, but serum potassium levels are kept in the physiologic range by increased levels of progesterone, which resist kaliuresis. In the presence of GS, this compensatory mechanism is easily overwhelmed, resulting in profound hypokalemia. We present a case of an 18-year-old primigravida with undiagnosed GS who presented with hyperemesis gravidarum in her 7th week of pregnancy. This report adds to the limited experience with GS in pregnancy as reported in literature and provides additional information on medical management that leads to successful maternal and fetal outcomes.

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“…Twelve pregnancies to mothers with GS have been described previously, all with an uneventful pregnancy course and excellent outcome, despite inability to normalize maternal serum potassium and magnesium levels even with large doses of oral supplements 1,2 . The aim in pregnancy should be to give adequate therapy to prevent maternal symptoms.…”

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confidence: 99%

“…Two years post delivery mother and baby are well.Twelve pregnancies to mothers with GS have been described previously, all with an uneventful pregnancy course and excellent outcome, despite inability to normalize maternal serum potassium and magnesium levels even with large doses of oral supplements. 1,2 The aim in pregnancy should be to give adequate therapy to prevent maternal symptoms. Spironolactone and amiloride have been used in pregnancies complicated by GS syndrome in addition to electrolyte supplementation.…”

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confidence: 99%

Eplerenone for Gitelman Syndrome in Pregnancy

Morton

Panitz

Bush³

2011

Nephrology

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Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy because of mutations in the gene for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule. GS is characterized by hypokalaemia, secondary hyperaldosteronism, hypocalciuria and hypomagnesaemia. Little is known about GS in pregnancy. Eplerenone is an aldosterone antagonist and potassium-sparing diuretic used to treat hypertension and cardiac failure. We report the use of eplerenone to treat GS in pregnancy with a successful outcome for mother and baby.A 21 years old nulliparous woman presented with longstanding lethargy, muscle cramps, nausea, thirst and nocturia. Serum potassium was 2.6 mmol/L, urine potassium was inappropriately high consistent with renal loss, there was mild hypomagnesaemia, hypocalcuria and secondary hyperaldosteronism. She denied diuretic use. She had otherwise been well with no significant past medical history. GS was confirmed by DNA sequence analysis revealing compound heterozygosity with pathogenic mutations in exon 18 (2186G > T) and exon 25 (2872A > T) in the SLC12A3 gene. She was intolerant of oral potassium and magnesium supplements, spironolactone and non-steroidal anti-inflammatory drugs because of nausea, and intolerant of amiloride because of tinnitus. Treatment with a combination of eplerenone 50 mg twice a day and perindopril 2.5 mg each morning resulted in resolution of her symptoms and a serum potassium at the lower end of the normal range. After preconception counselling her perindopril was ceased, and she elected to fall pregnant while continuing treatment with eplerenone. Other than intermittent vomiting in first trimester her confinement was uneventful, with her serum potassium ranging between 2.6 and 2.9 mmol/L, a healthy baby girl weighing 3630 g born by vaginal delivery at 39 weeks gestation. The babies' potassium was normal. Two years post delivery mother and baby are well.Twelve pregnancies to mothers with GS have been described previously, all with an uneventful pregnancy course and excellent outcome, despite inability to normalize maternal serum potassium and magnesium levels even with large doses of oral supplements. 1,2 The aim in pregnancy should be to give adequate therapy to prevent maternal symptoms. Spironolactone and amiloride have been used in pregnancies complicated by GS syndrome in addition to electrolyte supplementation. Amniotic fluid levels should be monitored as oligohydramnios was reported in 5 of the 12 pregnancies. Eplerenone was used in our mother because of her intolerance to spironolactone, amiloride and oral potassium and magnesium supplements. We are only aware of one previous report of eplerenone use in pregnancy, commenced at 32 weeks gestation in a 41 years old woman with diastolic heart failure. 3 A healthy newborn was delivered, the gestation was not stated. In animal studies the only noticeable risk of foetal abnormalities occurred when laboratory animals were given doses well over 1000 times the recommended daily dose of eplerenone. Epler...

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Gitelman syndrome-associated severe hypokalemia and hypomagnesemia: case report and review of the literature

Cited by 27 publications

References 9 publications

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

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

Hyperemesis Gravidarum in Undiagnosed Gitelman’s Syndrome

Eplerenone for Gitelman Syndrome in Pregnancy

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