Literature DB >> 25249735

Comment on Gitelman's syndrome: Rare presentation with growth retardation.

P Shanbag1, G Kotwaney1, D Patel1.   

Abstract

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Year:  2014        PMID: 25249735      PMCID: PMC4165070          DOI: 10.4103/0971-4065.133054

Source DB:  PubMed          Journal:  Indian J Nephrol        ISSN: 0971-4065


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Sir, We read with interest the article “Gitelman's syndrome (GS): Rare presentation with growth retardation”.[1] The authors say that presentation of GS with growth retardation is rare. They also state that they have not found any reported cases of GS in childhood and that theirs is probably the first ever case of GS to be reported in a child. However, neither of these claims is tenable since GS has been described in children and growth retardation is a common presenting complaint when the onset is early. Though GS has classically been considered to be a benign condition with onset in adolescence or childhood with patients being asymptomatic or having mild symptoms, clinical studies have revealed that patients with GS may show considerable phenotypic variability. Schmidt et al., described the clinical, biochemical and molecular genetic data in 5 children with GS.[2] Riveira-Munoz et al., in 2007 described mutations associated with a sub-group of patients presenting with “severe” symptomatology such as early onset, growth retardation severe neuromuscular manifestations such as tetany and seizures, rhabdomyolysis, chondrocalcinosis and ventricular arrhythmia. In fact, their study suggested that the nature/position of the SLC12A3 mutation, combined with male gender, is a determinant factor in the severity of GS. In their series, they had 6 children with onset at 12 years of age or less, with 2 boys being 21 months and 18 months at presentation.[3] Tammaro et al. described GS in two sets of prematurely born twins who presented with hypokalemia in the 1st month of life while Skalova et al., described an 18-month with GS who presented with psychomotor retardation and failure to thrive.[45] Sinha et al., from New Delhi also described a child with GS with onset at 2.5 years of age.[6] It is important to do an extensive literature search using Medical Subject Headings (MESH terms) to avoid missing relevant references. It might be worthwhile doing mutational analysis in this child due to the early age of presentation.
  6 in total

1.  Gitelman syndrome: novel mutation and long-term follow-up.

Authors:  Aditi Sinha; Petr Lněnička; Biswanath Basu; Ashima Gulati; Pankaj Hari; Arvind Bagga
Journal:  Clin Exp Nephrol       Date:  2011-10-04       Impact factor: 2.801

2.  Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

Authors:  Eva Riveira-Munoz; Qing Chang; Nathalie Godefroid; Joost G Hoenderop; René J Bindels; Karin Dahan; Olivier Devuyst
Journal:  J Am Soc Nephrol       Date:  2007-02-28       Impact factor: 10.121

3.  Clinical, biochemical and molecular genetic data in five children with Gitelman's syndrome.

Authors:  H Schmidt; M Kabesch; H P Schwarz; W Kiess
Journal:  Horm Metab Res       Date:  2001-06       Impact factor: 2.936

4.  Early appearance of hypokalemia in Gitelman syndrome.

Authors:  Fabiana Tammaro; Alberto Bettinelli; Donatella Cattarelli; Alessandra Cavazza; Carla Colombo; Marie-Louise Syrén; Silvana Tedeschi; Mario G Bianchetti
Journal:  Pediatr Nephrol       Date:  2010-06-16       Impact factor: 3.714

5.  Gitelman syndrome as a cause of psychomotor retardation in a toddler.

Authors:  Sylva Skalova; David Neuman; Petr Lnenicka; Jitka Stekrova
Journal:  Arab J Nephrol Transplant       Date:  2013-01

6.  Gitelman's syndrome: Rare presentation with growth retardation.

Authors:  A Gaur; R Ambey; B K Gaur
Journal:  Indian J Nephrol       Date:  2014-01
  6 in total

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