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  Table of Contents  
Year : 2014  |  Volume : 24  |  Issue : 5  |  Page : 337

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

Department of Pediatrics, ESI PGIMSR and MGM Hospital, Parel, Mumbai, Maharashtra, India

Date of Web Publication11-Sep-2014

Correspondence Address:
P Shanbag
801, Yashowan, T.H. Kataria Marg, Mahim, Mumbai - 400 016, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-4065.133054

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How to cite this article:
Shanbag P, Kotwaney G, Patel D. Comment on Gitelman's syndrome: Rare presentation with growth retardation. Indian J Nephrol 2014;24:337

How to cite this URL:
Shanbag P, Kotwaney G, Patel D. Comment on Gitelman's syndrome: Rare presentation with growth retardation. Indian J Nephrol [serial online] 2014 [cited 2022 Aug 13];24:337. Available from:


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 1 st month of life while Skalova et al., described an 18-month with GS who presented with psychomotor retardation and failure to thrive. [4],[5] 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.

  Acknowledgment Top

We would like to thank Dr. Nilima Kshirsagar, dean of our institution, for permitting us to publish this manuscript.

  References Top

1.Gaur A, Ambey R, Gaur BK. Gitelman′s syndrome: Rare presentation with growth retardation. Indian J Nephrol 2014;24;60-2.  Back to cited text no. 1
2.Schmidt H, Kabesch M, Schwarz HP, Kiess W. Clinical, biochemical and molecular genetic data in five children with Gitelman′s syndrome. Horm Metab Res 2001;33:354-7.  Back to cited text no. 2
3.Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, et al. Transcriptional and functional analyses of SLC12A3 mutations: New clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 2007;18:1271-83.  Back to cited text no. 3
4.Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML, et al. Early appearance of hypokalemia in Gitelman syndrome. Pediatr Nephrol 2010;25:2179-82.  Back to cited text no. 4
5.Skalova S, Neuman D, Lnenicka P, Stekrova J. Gitelman syndrome as a cause of psychomotor retardation in a toddler. Arab J Nephrol Transplant 2013;6:37-9.  Back to cited text no. 5
6.Sinha A, Lnìnièka P, Basu B, Gulati A, Hari P, Bagga A. Gitelman syndrome: Novel mutation and long-term follow-up. Clin Exp Nephrol 2012;16:306-9.  Back to cited text no. 6


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