The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies

• DOI: 10.1210/jc.2010-0392
• Publication Date: 2010-09-02T01:45:00Z
• Authors: Kandai Nozu; Kazumoto Iijima; Kyoko Kanda; Koichi Nakanishi; Norishige Yoshikawa; Kenichi Satomura; Hiroshi Kaito; Yuya Hashimura; Takeshi Ninchoji; Hiroshi Komatsu; Koichi Kamei; Ritsuko Miyashita; Masaaki Kugo; Hiroshi Ohashi; Hajime Yamazaki; Hiroyo Mabe; Asa Otsubo; Takashi Igarashi; Masafumi Matsuo
• Keywords: Gitelman syndrome; Hypocalciuria; Thiazide; Bartter syndrome

Our understanding of inherited salt-losing tubulopathies has improved with recent advances in molecular genetics. However, the terminology Bartter syndrome and Gitelman does not always accurately reflect their pathophysiological basis or clinical presentation, some patients are difficult to diagnose from presentations.In present study, we conducted analysis diuretic tests for clarify pharmacological characteristics these disorders.We detected mutations subsequently using furosemide thiazide 16 (two SLC12A1; two KCNJ1; nine CLCNKB; three SLC12A3).Patients SLC12A1 showed no response furosemide, whereas those SLC12A3 thiazide. CLCNKB a normal KCNJ1 good both diuretics. This study revealed following disorders: 1) subjects one more biochemical features (including hypomagnesemia, hypocalciuria, fractional chloride excretion insensitivity administration); 2) appeared show sensitivity administration.These results indicate that disorders distinguish patients, even when challenge. report provides important findings can improve our renal tubular physiology.