Schweizer J J, van Collenburg J J
St.-Sophia Ziekenhuis, afd. Kindergeneeskunde, Zwolle.
Ned Tijdschr Geneeskd. 1997 Aug 30;141(35):1698-701.
Gitelman's syndrome was diagnosed in five siblings. The parents were relatives in the third remove. Gitelman's syndrome is a rare autosomal recessive hereditary magnesium reabsorption defect in the distal tubule. It is characterized by episodes of muscle weakness, usually accompanied by abdominal pain and vomiting. Tetany may occur during a febrile illness. Patients are of normal height and weight and have normal blood pressures. Sometimes eczematous skin lesions are found. Biochemically there is hypokalaemia, hypomagnesaemia and alkalosis. Urinary excretion rates of potassium and magnesium are elevated, the excretion of calcium is diminished. Treatment consists of oral suppletion of magnesium, sometimes also with oral potassium. A potassium-sparing diuretic may be used. The prognosis appears to be good.
吉特曼综合征在五名兄弟姐妹中被诊断出来。父母是第三代亲属。吉特曼综合征是一种罕见的常染色体隐性遗传性远曲小管镁重吸收缺陷疾病。其特征为肌肉无力发作,通常伴有腹痛和呕吐。发热性疾病期间可能会发生手足搐搦。患者身高和体重正常,血压也正常。有时会发现湿疹样皮肤病变。生化检查显示有低钾血症、低镁血症和碱中毒。钾和镁的尿排泄率升高,钙的排泄减少。治疗包括口服补充镁,有时也口服钾。可使用保钾利尿剂。预后似乎良好。