Donaldson M D, Warner A A, Trompeter R S, Haycock G B, Chantler C
Arch Dis Child. 1985 May;60(5):426-34. doi: 10.1136/adc.60.5.426.
Fourteen patients with familial juvenile nephronophthisis are described, eight of whom displayed one or more additional disorders. One boy with short limbed dwarfism and an abnormal chest was considered to have Jeune's syndrome; review of the published reports supports the view that nephronophthisis is the principal cause of renal failure in this disorder. Another patient with renal failure and retinitis pigmentosa at presentation developed progressive neurological and neuromuscular impairment leading to the discovery of ragged red fibre disease (mitochondrial cytopathy). Cardiomyopathy was present in this and one other patient. Tapeto-retinal degeneration, hepatic fibrosis, cerebellar ataxia, and oculomotor apraxia were among the other disorders encountered. Three patients presented in extremis with acute heart failure and irreversible oligo-anuria and this complication developed in another child who was already known to have nephronophthisis. Awareness of this disease and its associations is important for early diagnosis and appropriate management.
本文描述了14例家族性青少年肾单位肾痨患者，其中8例伴有一种或多种其他病症。一名患有短肢侏儒症和胸廓异常的男孩被认为患有儒内综合征；对已发表报告的回顾支持了肾单位肾痨是该病症肾衰竭主要病因的观点。另一名初诊时患有肾衰竭和色素性视网膜炎的患者出现了进行性神经和神经肌肉损害，进而发现了破碎红纤维病（线粒体细胞病）。该患者和另一名患者存在心肌病。视网膜色素变性、肝纤维化、小脑共济失调和眼球运动失用症也在其他病例中出现。3例患者在病情危急时出现急性心力衰竭和不可逆的少尿-无尿，另一名已知患有肾单位肾痨的儿童也出现了这一并发症。了解这种疾病及其关联对于早期诊断和适当治疗很重要。
