Classical Bartter syndrome in a 3 years old girl
DOI:
https://doi.org/10.18203/2349-3291.ijcp20205107Keywords:
Bartter syndrome, Metabolic alkalosis, Polydipsia, PolyuriaAbstract
Bartter syndrome is rare genetic disorder of kidney characterized by hypokalemia, hypochloremia, metabolic alkalosis, hyponatremia, hypercalciuria, hyperreninemia, hyperaldosteronism with normal blood pressure. Here we report a case of 3 year old girl born of consanguious marriage, with complaints of not gaining weight with history of polyuria, polydipsia, having clinical and laboratory features of Bartter syndrome.
Metrics
References
Bartter FC, Pronove P, Gill JR. Hyperplasia of juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med. 1962;33:811-28.
Lee BH, Cho HY, Lee H, et al. Genetic basis of Bartter syndrome in Korea. Nephrol Dial Transplant. 2012;27(4):1516–1521.
Miyata M, Takase Y, Kobayashi H, et al. Primary Sjogren’s syndrome complicated by sarcoidosis. Intern Med. 1998;37:174-8.
Stoian M, Chitac D, Bontas E, Dumitrescu AM, Stocia V. Bartter syndrome with pulmonary Tuberculosis a shortly outlook. Med J Clin Med. 2007;2:332-6.
Calò L, Davis PA, Semplicini A. Reduced content of alpha subunit of Gq protein content in monocytes of Bartter and Gitelman syndromes: relationship with vascular hyporeactivity. Kidney Int. 2002;61(1):353-4.
Brenner B, Levine S. Inherited disorders of renal tubule. In: Brenner and Rector's The kidney. 8th ed. Philadelphia, PA: WB Saunders. 2007;1411-4.
Rodriguez-Soriano J. Bartter and related syndromes. Pediatr Nephrol. 1998;12:315-27.
Lin SH, Yang SS, Chau T. A practical approach to genetic hypokalemia. Electrolyte Blood Press. 2010;8(1):38-50.
Proesmans W, Massa G, Vanderberghe K. Prenatal diagnosis in Bartter syndrome. Lancet. 1987;1:394-5.
Amirlak I, Dawson KP. Bartter syndrome: an overview. QJM. 2000;93(4):207-21.
Proesmans W, Massa G, Vanderschueren-Lodeweyckx M. Growth from birth to adulthood in a patient with the neonatal form of Bartter syndrome. Pediatr Nephrol. 1988;2:205-9.