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      Gitelman’s Syndrome in Pregnancy With Adverse Foetal Outcome: A Case Report

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      Author(s): 1 , 1 , , 1
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      Publication date (Electronic, pub):
      Publication date (Electronic, collection):
      Journal: Cureus
      Publisher: Cureus
      Keywords: foetal outcome, metabolic alkalosis, hypocalciuria, hypomagnesemia, hypokalemia, gitleman's syndrome

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          Abstract

          Gitelman’s syndrome (GS) is a disorder characterized by hypokalaemia, hypomagnesemia, hypocalciuric and metabolic alkalosis. Despite the fact that it affects women of child-bearing age, only limited information is available regarding its impact on maternal and foetal outcome. We present the case of an un-booked and un-investigated 23-year-old primigravida who presented with chief complaints of vomiting and loose stools. The patient also complained of absent foetal movements in the last 12 hours. Investigations revealed hypokalaemia and hypomagnesemia and ultrasound revealed intra-uterine foetal demise. The patient was symptomatically relieved after electrolyte correction. Scarce reports on Gitelman’s syndrome in pregnancy have been documented with the majority of cases showing positive outcomes for the foetus. We hereby present a report of a primigravida with Gitelman’s syndrome and foetal loss which is considered uncommon.

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          Gitelman syndrome

          Nine Knoers, Elena N. Levtchenko (2008)
          Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC), are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria). Bartter syndrome (especially type III) is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS is technically feasible but not advised because of the good prognosis in the majority of patients. Most asymptomatic patients with GS remain untreated and undergo ambulatory monitoring, once a year, generally by nephrologists. Lifelong supplementation of magnesium (magnesium-oxide and magnesium-sulfate) is recommended. Cardiac work-up should be offered to screen for risk factors of cardiac arrhythmias. All GS patients are encouraged to maintain a high-sodium and high potassium diet. In general, the long-term prognosis of GS is excellent.
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            An improved terminology and classification of Bartter-like syndromes.

            Hannsjörg Seyberth (2008)
            This Review outlines a terminology and classification of Bartter-like syndromes that is based on the underlying causes of these inherited salt-losing tubulopathies and is, therefore, more clinically relevant than the classical definition. Three major types of salt-losing tubulopathy can be defined: distal convoluted tubule dysfunction leading to hypokalemia (currently known as Gitelman or Bartter syndrome), the more-severe condition of polyuric loop dysfunction (often referred to as antenatal Bartter or hyperprostaglandin E syndrome), and the most-severe condition of combined loop and distal convoluted tubule dysfunction (antenatal Bartter or hyperprostaglandin E syndrome with sensorineural deafness). These three subtypes can each be further subdivided according to the identity of the defective ion transporter or channel: the sodium-chloride cotransporter NCCT or the chloride channel ClC-Kb in distal convoluted tubule dysfunction; the sodium-potassium-chloride cotransporter NKCC2 or the renal outer medullary potassium channel in loop dysfunction; and the chloride channels ClC-Ka and ClC-Kb or their beta-subunit Barttin in combined distal convoluted tubule and loop dysfunction. This new classification should help clinicians to better understand the pathophysiology of these syndromes and choose the most appropriate treatment for affected patients, while avoiding potentially harmful diagnostic and therapeutic approaches.
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              Eplerenone for gitelman syndrome in pregnancy.

              Adam Morton, Barbara Panitz, Adam Bush (2011)
              Article 0 comments Cited 14 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 9 February 2023
                Publication date (Electronic, collection): February 2023
                Volume: 15
                Issue: 2
                Electronic Location Identifier: e34791
                Affiliations
                [1 ] Obstetrics and Gynaecology, Teerthanker Mahaveer Medical College and Research Center, Moradabad, IND
                Author notes
                Article
                DOI: 10.7759/cureus.34791
                PMC ID: 10006726
                PubMed ID: 36915844
                SO-VID: 9ed7c59b-6617-4a2b-930d-9893e5d48b86
                Copyright © Copyright © 2023, Najam et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date accepted : 9 February 2023
                Categories
                Subject: Internal Medicine
                Subject: Obstetrics/Gynecology

                Keywords: foetal outcome,metabolic alkalosis,hypocalciuria,hypomagnesemia,hypokalemia,gitleman's syndrome
                Data availability:
                Keywords: foetal outcome, metabolic alkalosis, hypocalciuria, hypomagnesemia, hypokalemia, gitleman's syndrome

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