Kaufeld Jessica, Weber Lutz T, Kurschat Christine, Canaan-Kuehl Sima, Brand Eva, Oh Jun, Pape Lars
Klinik für Nieren- und Hochdruckerkrankungen, Medizinische Hochschule Hannover, Hannover, Deutschland.
Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinik Köln, Köln, Deutschland.
Internist (Berl). 2018 Aug;59(8):861-867. doi: 10.1007/s00108-018-0416-3.
This article presents a case of cystinosis in a young man. Diagnosis of the disease and the problem of transition to adult care are described. Cystinosis is a rare lysosomal storage disease with first manifestation in early childhood presenting as renal Fanconi syndrome. Without treatment, the disease leads to severe health impairment. Due to the rarity of the disease, a correct diagnosis is often delayed. Without treatment, cystinosis often leads to end-stage renal failure, blindness, hypothyroidism, diabetes mellitus, and rickets. Cystine-depleting therapy with cysteamine significantly improves mortality and quality of life.
本文介绍了一名年轻男性的胱氨酸贮积症病例。描述了该疾病的诊断以及向成人护理过渡的问题。胱氨酸贮积症是一种罕见的溶酶体贮积病，最早在幼儿期表现为肾性范科尼综合征。未经治疗，该疾病会导致严重的健康损害。由于该疾病罕见，正确诊断往往会延迟。未经治疗，胱氨酸贮积症常导致终末期肾衰竭、失明、甲状腺功能减退、糖尿病和佝偻病。用半胱胺进行的耗胱氨酸疗法可显著提高生存率和生活质量。
