Pregnancy in Inherited Hypokalemic Salt-Losing Renal Tubular Disorder

Mascetti, Laura; Bettinelli, Alberto; Simonetti, Giacomo D.; Tagliabue, A; Syrén, Marie Louise; Nordio, Francesco; Bianchetti, Mario G.

doi:10.1097/aog.0b013e3182075317

Cited by 29 publications

(15 citation statements)

References 25 publications

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“…The authors note that no feminization was seen in the male newborn. This is consistent with the findings of Mascetti et al who describe a series of spironolactone-exposed children born to a group of mothers with Bartter syndrome, another potassium-wasting nephropathy [ 4 ]. The use of amiloride and eplerenone, both class B drugs in pregnancy, has been previously documented in GS [ 4 , 9 , 14 , 15 ].…”

Section: Discussionsupporting

confidence: 92%

“…The symptoms may be exacerbated by hyperemesis and fetal demand for potassium [ 9 , 12 ]. Worsening of symptoms is cited as a reason for the modification of therapy [ 3 , 4 , 6 – 11 , 13 ]. Our patient did not exhibit symptoms during her pregnancy, and we felt that intravenous potassium loading would be inefficient and unnecessary in the absence of symptoms.…”

Section: Discussionmentioning

confidence: 99%

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Gitelman syndrome and pregnancy

Moustakakis

Bockorny

2012

Clinical Kidney Journal

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Gitelman syndrome (GS) is an autosomal-recessive condition characterized by hypokalemia, hypomagnesemia and hypocalciuria. Very little information is available in the literature to guide the management of pregnant patients with GS. We report a case of a 27-year-old woman with GS who became pregnant and despite persistent hypokalemia and hypomagnesemia during pregnancy and labor, had a successful maternal and fetal outcome.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Gitelman syndrome and pregnancy

Moustakakis

Bockorny

2012

Clinical Kidney Journal

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“…Thus up-regulation of NCCT by female sex hormones may be a compensatory mechanism to preserve circulating volume in the face of functional aldosterone antagonism, and failure to achieve this exacerbates the Gitelman phenotype. The observation that both pregnant patients in our cohort required additional electrolyte replacement supports this, and 28 of 47 patients in a larger series of pregnant GS patients had higher potassium requirements in pregnancy [18]. Hyperfiltration may also account for the greater degree of renal potassium wasting observed.…”

Section: Discussionsupporting

confidence: 74%

Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements

Berry

Robinson

Karet

2013

Nephrology Dialysis Transplantation

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BackgroundGitelman syndrome (GS) is a rare inherited disorder caused by mutations in SLC12A3, encoding the thiazide-sensitive transporter NCCT (sodium chloride co-transporter) in the distal tubule. It is characterized by renal potassium (K) and magnesium (Mg) wasting, relative hypotension and hypocalciuria. However, there is phenotypic variability and long-term studies are scarce.MethodsWe retrospectively assessed clinical and genetic characteristics, and electrolyte requirements, in a cohort of 36 patients with genetically proven GS.ResultsThe 21 males and 15 females were of median age 39.5 years, range 17–66 years. Six were diagnosed in childhood. Among the 72 mutant alleles, 41 different sequence alterations were identified, of which 13 were previously unreported. Surprisingly, 44% (n = 16) of the cohort has developed hypertension (13 males, 3 females, P = 0.019; median age 53 versus 57 years, P = 0.95). One was already hypertensive by age 23 years. Currently normotensive patients were significantly younger: median 37 versus 55 years (P = 0.005). Hypertensive patients were more likely to harbour mutations in the C-terminal half of the NCCT protein (P = 0.016). Females required more K (median 128 versus 72 mmol/day; P = 0.01) but not Mg. Those with exon 26 and/or at least one destructive mutation had higher K requirements than those with neither: 108 versus 72 mmol (P = 0.016) and a tendency towards higher Mg needs: 30 versus 7.4 mmol (P = 0.07).ConclusionsOur findings suggest that the development of secondary hypertension may be an expected feature of the ageing GS population despite the obligate salt wasting that characterizes the disorder. We hypothesize that this may be related to chronic secondary hyperaldosteronism. The apparently more severe phenotype in women may be related to the effects of female sex hormones on expression or function of NCCT.

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“…The intravenous supplementation used was more aggressive comparatively to other reports of GS in pregnancy. Spironolactone , amiloride , and eplerenone can be used, but their use in pregnancy is controversial for safety reasons. It is recommended that their use must be weighed against the risk of not taking them.…”

Section: Discussionmentioning

confidence: 99%