Management of childhood Gitelman syndrome: a case study
Abstract
Gitelman syndrome is a rare, autosomal recessive, renal tubular salt wasting disorder characterized by hypokalemia, and metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria.1,2 The prevalence is estimated to be 1 in 40,000 individuals. The condition affects both males and females of all ethnic backgrounds. The prevalence of heterozygotes is approximately 1% in Caucasian populations.2,3
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. Symptoms, such as transient episodes of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever, are often seen in Gitelman syndrome patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance of chondrocalcinosis at adult age 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 Gitelman syndrome patients with severe hypokalemia and hypomagnesemia.2,4
References
Min SR, Cho HS, Hong J, Cheong HI, Ahn SY. Gitelman syndrome combined with complete growth hormone deficiency. Ann Pediatr Endocrinol Metab. 2013;18:36-9.
Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22.
Skalova S, Neuman D, Lnenicka P, Stekrova J. Gitelman syndrome as a cause of pyschomotor retardation in a toddler. Arab J Nephrol Transplant. 2013;6:37-9.
Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Gitelman syndrome: pathophysiological and clinical spects. Q J M. 2010;103:741-8.
Galli-Tsinopoulou A, Patseadou M, Hatzidimitriou A, Kokka P, Emmanouilidou E, Lin S, et al. Gitelman syndrome: first report of genetically established diagnosis in Greece. Hippokratia. 2010;14:42-4.
Raza F, Sultan M, Qamar K, Jawad A, Jawa A. Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report. J Med Case Rep. 2012;6:331.
Lin SH. Gitelman’s syndrome. J Med Sci. 2004;24:1-12.
Lin SH. Gitelman’s syndrome: from clinic to gene. Acta Nephrologica. 2003;17:113-20.
Solanki K, Qureshi F, Sebastian C. An uninvestigated case of hypokalaemia with profound weakness and tiredness in New Zealand: Gitelman’s Syndrome. N Z Med J. 2003;116:U481.
Barnes B. Vomiting after infancy. In: Bajaj L, Hambidge SJ, Kerby G, Nyquist A-C, editors. Berman’s pediatric decision making strategies. 5th ed. Philadelphia: Elsevier Mosby; 2011. p. 242-5.
Britt S. Acute weakness in childhood. In: Bajaj L, Hambidge SJ, Kerby G, Nyquist A-C, editors. Berman’s pediatric decision making strategies. 5th ed. Philadelphia: Elsevier Mosby; 2011. p. 374-8.
Chan W. Fluid and electrolyte disorder. In: Chiu MC, Yap HK, editors. Practical paediatric nephrology: an update of current practices. Hong Kong: Medcom Limited; 2005. p. 59-79.
Assadi F. Diagnosis of hypokalemia: a problem-solving approach to clinical cases. Iran J Kidney Dis. 2008;2:115-22.
Bettinelli A, Tedeschi S. Hypokalemia and hypomagnesemia of hereditary renal tubular origin. Bartter and Gitelman syndromes. Acta Biomed. 2003;74:163-7.
Beattie J, Azmy A. Urinary tract problems. In: Beattie TJ, Carachi R, editors. Practical paediatric problems. Boca Raton: CRC Press; 2005. p. 378-88.
Martin KJ, Gonzalez EA, Slatopolsky E. Clinical consequences and management of hypomagnesemia. J Am Soc Nephrol. 2009;20:2291-5.
Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol. 2003;14:249-60.
Umbreit J. Iron deficiency: a concise review. Am J Hematol. 2005;78:225-31.
Wassmer E, Davies P, Whitehouse WP, Green SH. Clinical spectrum associated with cerebellar hypoplasia. Pediatr Neurol. 2003;28:347-51.
Bolduc ME, Limperopoulos C. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 2009;51:256-67.
Unwin RJ, Capasso G. Bartter’s and Gitelman’s syndromes: their relationship to the actions of loop and thiazide diuretics. Curr Opin Pharmacol. 2006;6:208-13.
Hui J. Renal tubular disorders. In: Chiu MC, Yap HK, editors. Practical paediatric nephrology: an update of current practices. Hong Kong: Medcom Limited; 2005. p. 196-208.
Akhtar N, Hafeez F. A rare case of Gitelman’s syndrome with hypophosphatemia. J Coll Physicians Surg Pak. 2009;19:257-9.
Lau P, Yap H. Treatment of magnesium deficiency. In: Yap HK, Liu ID, Tay WC, editors. Pediatric nephrology on-the-go. Singapore: Children’s Kidney Centre, National University Hospital; 2012. p. 94-5.
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Accepted 2016-08-18
Published 2016-07-01
