Педиатрия 1-son (2026) · 72-86-betlar
MODERN ASPECTS OF BARTTER’S SYNDROME
Akhmedova D.I., Abidova M.D.
Annotatsiya
The article provides a comprehensive review of recent advancements in the understanding, diagnosis, and management of Bartter’s syndrome, a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism, and normal-to-low blood pressure. The authors systematically analyze the genetic and molecular pathophysiology of the disease, emphasizing mutations in genes encoding ion transport proteins in the thick ascending limb of the loop of Henle (e.g., NKCC2, ROMK, CLCNKB, BSND, and CLCNKA). The review highlights how these mutations disrupt electrolyte reabsorption, leading to the clinical manifestations of the syndrome. A significant portion of the article is dedicated to the classification of Bartter’s syndrome into distinct subtypes based on genetic defects and phenotypic variability. The authors discuss the challenges in differential diagnosis, particularly in distinguishing Bartter’s syndrome from other electrolyte disorders such as Gitelman syndrome and pseudo-Bartter’s syndrome. Modern diagnostic approaches, including next-generation sequencing and biochemical profiling, are critically evaluated for their accuracy and accessibility. Therapeutic strategies are thoroughly reviewed, with an emphasis on personalized treatment, including potassium-sparing diuretics, NSAIDs (to counteract prostaglandin- mediated hyperreninemia), and electrolyte supplementation. The article also explores emerging therapies, such as targeted molecular interventions, though acknowledges the need for further research. Overall, this review is a valuable resource for clinicians and researchers, offering an up-to-date synthesis of genetic, diagnostic, and therapeutic advancements in Bartter’s syndrome. However, the authors note that despite progress, long-term outcomes and optimal management protocols remain areas requiring further investigation. The article underscores the importance of early diagnosis and multidisciplinary care in improving patient prognosis.
Metadata manbasi: jurnal OAI-PMH arxivi · Sindex toʻliq matnni saqlamaydi, manbaga havola beradi.