Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness (BARTS4B)
摘要
Bartter syndrome is a genetically heterogeneous kidney disorder with defective sodium, potassium, and chloride reabsorption in the thick ascending loop of Henle (Hebert 2003). This disorder is divided into two major types: antenatal and classic Bartter syndrome. In this syndrome, the kidneys are unable to physiologically regulate body fluid, volume, and electrolyte balance. This disorder was identified by Bartter and colleagues in 1962. These scientists discovered a new syndrome characterized by hypokalemia and metabolic alkalosis with hyperaldosteronism and hyperplasia of the juxtaglomerular apparatus. This disorder differs from the typical condition of hyperaldosteronism as it occurs in younger patients with normal blood pressure and had growth retardation (Bartter et al. 1962).