Nephrology and Dialysis Unit, IRCCS Istituto Clinico Humanitas, Rozzano, Milano, Italy.
QJM. 2010 Oct;103(10):741-8. doi: 10.1093/qjmed/hcq123. Epub 2010 Jul 22.
Giltelman syndrome (GS) is a recessive salt-losing tubulopathy of children or young adults caused by a mutation of genes encoding the human sodium chloride cotransporters and magnesium channels in the thiazide-sensitive segments of the distal convoluted tubule. The plasma biochemical picture is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hypereninemic hyperaldosteronism. However, patients with GS present some clinical and biochemical alterations resembling that observed in thiazide diuretics abuse. On the pathophysiological point of view, GS represents a useful and interesting human model to better understand the clinical consequences of plasma hydro-electrolytes and acid-base derangements, associated with multiple hormonal alterations. The impact of this complex disorder involves cardiovascular, muscle-skeletal and some other physiological functions, adversely affecting the patient's quality of life. This review tries to summarize and better explain the linkage between the electrolytes, neurohormonal derangements and clinical picture. Moreover, the differential diagnosis between other similar electrolyte-induced clinical disorders and GS is also discussed.
吉尔泰尔曼综合征（GS）是一种儿童或青年期发病的隐性失盐性肾小管疾病，由编码人类钠氯共转运体和远曲小管噻嗪敏感段镁通道的基因突变引起。其血浆生化特征为低钾血症、低镁血症、低钙尿症、代谢性碱中毒和高肾素性醛固酮血症。然而，GS 患者存在一些类似噻嗪类利尿剂滥用的临床和生化改变。从病理生理学角度来看，GS 是一个有用且有趣的人类模型，有助于更好地理解与多种激素改变相关的血浆水-电解质和酸碱紊乱的临床后果。这种复杂疾病的影响涉及心血管、肌肉骨骼和其他一些生理功能，对患者的生活质量产生不利影响。本文综述试图总结并更好地解释电解质、神经激素紊乱与临床表型之间的联系。此外，还讨论了 GS 与其他类似电解质诱导的临床疾病之间的鉴别诊断。
