Juxtaglomerular hyperplasia

Juxtaglomerular hyperplasia syndrome, alias: Bart syndrome; Bartle syndrome; Bartter syndrome; Congenital aldosteronism; Chronic idiopathic hypokalemia; This syndrome is an autosomal recessive disease. It was first reported by Bartter (1962) and is called Bartter syndrome. The juxtaglomerular hyperplasia syndrome is characterized by severe hypokalemia, alkalosis and low blood sodium and chlorine. Normal blood pressure is accompanied by polydipsia, constipation and dehydration. Plasma renin-angiotensin and aldosterone were increased. This syndrome is an autosomal recessive disease. It was first reported by Bartter (1962) and is called Bartter syndrome. Its clinical features are severe hypokalemia and metabolic alkalosis, accompanied by hyperreninism and hyperaldosteroneemia, juxtaglomerular hyperplasia and hypertrophy, and renal tubule sodium retention and concentration dysfunction, but without hypertension and edema And no response to exogenous angiotensin II. This syndrome is considered to be a clinical syndrome caused by mutations in ion channel genes. This disease is also known as congenital hyperaldosteronism, chronic idiopathic hypokalemia, and juxtaglomerular hyperplasia syndrome. Molecular diagnostic studies in recent years have revealed that Bartter syndrome has three different clinical and genetic types, namely congenital Bartter The syndrome is typically Bartter syndrome and Gitelman syndrome. Bartter syndrome is commonly referred to as the typical Bartter syndrome. There are two genotypes found in patients with congenital Bartter syndrome. Type Ⅰ is due to a non-functional mutation in N + -K + -2CL-. Type Ⅱ is due to a ROMK gene mutation. Typical Bartter syndrome is due to the CLC-kb channel Caused by genetic mutation.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.