ABSTRACT
@#Abstract: Bartter syndrome (BS) is a kind of inherited metabolic disease characterized by electrolyte and endocrine disorder, resulting from genetic gene mutation or deletion. Clinically, it manifests as vomiting, constipation, feeding difficulties, weight loss, growth retardation. The laboratory examination shows hypokalemia, metabolic alkalosis, hyperreninemia, aldosteronism, etc. As an autosomal recessive genetic disease, BS has an extremely low incidence rate, making diagnosis and treatment quite challenging. In recent years, with the progress of gene detection and other technologies, China has made great progress in the study of BS, more and more BS has been diagnosed accurately. According to known gene mutation types, it can be divided into type 1, type 2, type 3, type 4, type 5 and Gitelman syndrome, a total of 6 types, with type 4 further divided into type 4a and type 4b. At present, the most common type of children with BS in clinical practice is type 3, which is the classic type of BS. This paper reports a case of Bartter syndrome type 4b (BS4b). After two rounds of three-generation family gene sequencing, it was discovered that the infant had a combined mutation of both the CLCNKA and CLCNKB alleles, in addition to Alport syndrome, and both parents were carriers of this type of gene defect. The child was finally diagnosed as BS4b and Alport syndrome. This report, combined with the patient's clinical features, diagnosis and treatment process, as well as related literature analysis, aims to provide experience for understanding and diagnosis and treatment of this disease.
ABSTRACT
The ions transport in human cells plays a key role in maintaining normal physiological functions of cells, and the solute transporter(SLC)is responsible for most of the ions transport in somatic cells.The SLC12 family encodes electrically neutral cation-coupled chloride ion cotransporters, which are essential in maintaining intracellular and extracellular chloride balance and related cellular physiological processes.At present, there are 9 members of SLC12 family, and the expression and distribution of these family members are tissue-specific.They are distributed in renal tissues and mainly expressed in renal tubular epithelial cells, and their distribution and expression are significantly different, so their physiological roles in kidney are also different.This article will briefly review the physiological role of SLC12 family in kidney and related renal tubular diseases.