2019, Number 09
Bartter syndrome related to severe polyhydramnios
Language: Spanish
References: 20
Page:
PDF size: 313.09 Kb.
ABSTRACT
Bartter syndrome is an autosomal recessive hereditary renal tubular disorder, uncommon, affecting approximately 1 in 1,000,000 of the population. This syndrome is caused by homozygous or heterozygous mutations composed of four genes that encode proteins that participate in the tubular reabsorption of fluid in the thick ascending segment of the loop of Henle, causing an alteration in the reabsorption of sodium, potassium and chlorine, resulting in clinical manifestations of importance.REFERENCES
Bernardo Vega R, Lobo Valentin R, Martin Medrano E, González Blanco I, Arias Valdés E, Vázquez Camino F. Síndrome de Bartter como causa de polihidramnios severo. A propósito de un caso. Clínica e Investigación en Ginecología y Obstetricia. 2016 01;43(1):43- 45. https://doi.org/10.1016/j.gine.2014.12.003
Laghmani K, Beck BB, Yang S, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin S, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Polyhydramnios, Transient Antenatal Bartter’s Syndrome, andMAGED2Mutations. New England Journal of Medicine. 2016 05 12;374(19):1853-1863. https://doi.org/10.1056/nejmoa1507629