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在精神科诊所中诊断为神经性厌食症的 Gitelman 综合征病例。

A Case of Gitelman Syndrome Diagnosed with Anorexia Nervosa in a Psychiatry Clinic.

出版信息

Turk Psikiyatri Derg. 2020 Spring;31(1):69-73. doi: 10.5080/u23601.

Abstract

Anorexia nervosa is a disorder that is characterized by excessive preoccupation with body weight and shape, and conscious attempts to stay in low weight due to fear of weight gain. Vomiting, one of the METHODS used by anorexia nervosa patients to stay in low weight, is one of the most important causes of hypokalemia. Diuretics and diarrhea are other common causes of hypokalemia. If hypokalemia is chronic and resistant to treatment, eating disorders and other metabolic conditions should be investigated. One of the rare causes of hypokalemia, an electrolyte imbalance that can cause fatal outcomes, is Gitelman syndrome. Gitelman Syndrome is a genetically inherited disease of the distal tubules which causes hypokalemia, metabolic alkalosis, hypocalcemia, hypomagnesemia and vomiting. It is a syndrome usually diagnosed during adolescence, however it sometimes remains asymptomatic throughout life. Severe symptoms such as tetanus, rhabdomyolysis, and paralysis can also be seen. A case of Gitelman syndrome which was diagnosed as anorexia nervosa due to physical appearance of the patient, low body mass index (BMI), and frequent vomiting and in which the other medical pathologies have not been adequately investigated is presented in this article. Assessments to exclude the medical conditions that may be associated with symptoms are necessary before a diagnosis of a psychiatric disorder is made.

摘要

神经性厌食症是一种以过度关注体重和体型为特征的疾病,患者会有意识地通过控制体重来避免体重增加。神经性厌食症患者常用的保持低体重的方法之一是呕吐,这是导致低钾血症的最重要原因之一。利尿剂和腹泻也是低钾血症的常见原因。如果低钾血症是慢性的且治疗无效,则应调查饮食失调和其他代谢状况。低钾血症的一个罕见原因是吉特曼综合征,这是一种罕见的遗传性疾病,会导致致命的电解质失衡。吉特曼综合征是一种远端肾小管遗传性疾病,可导致低钾血症、代谢性碱中毒、低钙血症、低镁血症和呕吐。这种综合征通常在青春期被诊断,但有时终生无症状。严重的症状,如破伤风、横纹肌溶解和瘫痪,也可能发生。本文报道了一例因患者外貌、低体重指数(BMI)、频繁呕吐而被误诊为神经性厌食症,且其他病理情况未得到充分调查的吉特曼综合征病例。在做出精神障碍的诊断之前,有必要对可能与症状相关的医疗状况进行评估。

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