Kageyama K, Terui K, Shoji M, Tsutaya S, Matsuda E, Sakihara S, Nigawara T, Moriyama T, Yasujima M, Suda T
The Third Department of Internal Medicine, Hirosaki University Hospital, Aomori, Japan.
J Endocrinol Invest. 2005 Oct;28(9):822-6. doi: 10.1007/BF03347574.
Gitelman's syndrome is a recessively inherited renal tubular disorder characterized by low plasma potassium and magnesium levels, reduced calcium excretion, metabolic alkalosis, and increased plasma renin activity and plasma aldosterone concentration with normal blood pressure levels. A 23-yr-old man was referred to our department for further evaluation of hypokalemia. The patient also had hypomagnesemia and markedly reduced urinary calcium excretion. Renal clearance studies and gene analysis of the thiazide-sensitive Na-Cl cotransporter (TSC) were performed in the patient. In response to an iv injection of furosemide, chloride clearance (CCl) increased markedly, while distal fractional chloride reabsorption CH2O/(CH2O+CCl) was considerably reduced. In contrast, thiazide ingestion had no significant effects on these parameters. The patient had compound heterozygous mutations in the alleles encoding the TSC gene, one of which has not been formerly reported. Renal clearance studies and TSC gene analysis by amplification and direct sequencing are useful diagnostic tools for confirming a diagnosis of Gitelman's syndrome.
吉特曼综合征是一种隐性遗传性肾小管疾病，其特征为血浆钾和镁水平降低、钙排泄减少、代谢性碱中毒，以及血浆肾素活性和血浆醛固酮浓度升高，而血压水平正常。一名23岁男性因低钾血症被转诊至我科作进一步评估。该患者还存在低镁血症，尿钙排泄明显减少。对该患者进行了肾脏清除率研究以及噻嗪类敏感型钠-氯共转运体（TSC）的基因分析。静脉注射呋塞米后，氯清除率（CCl）显著升高，而远端氯分数重吸收CH2O/(CH2O + CCl)则大幅降低。相比之下，服用噻嗪类药物对这些参数无显著影响。该患者在编码TSC基因的等位基因中存在复合杂合突变，其中一个突变此前未见报道。通过扩增和直接测序进行肾脏清除率研究和TSC基因分析是确诊吉特曼综合征的有用诊断工具。
