Ahmed Javed, Ali Uma S
Department of Pediatric Nephrology, B.J. Wadia Hospital for Children, Parel, Mumbai, India.
Saudi J Kidney Dis Transpl. 2011 Jul;22(4):788-91.
Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), oculomotor, musculoskeletal and renal (e.g., cystic dysplasia, nephronophthisis), with renal failure. We describe a case of JS with nephronophthisis in neurofibromatosis Type 1 leading to end-stage renal disease, a association that has never been described earlier in the medical literature to the best of our knowledge.
乔伯特综合征（JS）是一种罕见的中枢神经系统发育障碍，其特征为脑干和小脑畸形、肌张力减退、发作性呼吸急促和呼吸暂停以及智力发育迟缓。它可能与其他全身性异常有关，如眼部（如视网膜发育异常等）、动眼、肌肉骨骼和肾脏（如囊性发育异常、肾单位肾痨），并可导致肾衰竭。我们描述了1例1型神经纤维瘤病合并肾单位肾痨导致终末期肾病的乔伯特综合征病例，据我们所知，这种关联在医学文献中此前从未被描述过。
