Rinaldi S, Dionisi-Vici C, Goffredo B, Dallapiccola B, Rizzoni G
Division of Nephrology and Dialysis, Bambino Gesú Children's Hospital, Rome, Italy.
Am J Med Genet. 1990 Nov;37(3):301-3. doi: 10.1002/ajmg.1320370302.
Jeune syndrome is generally lethal in the first months of life. Surviving patients develop progressive renal failure and hepatic fibrosis. We describe 2 sisters, aged 7 and 2 years, respectively, who had Jeune syndrome associated with cystinuria. To our knowledge, this is the first reported association of these 2 autosomal recessive disorders.
儒内综合征通常在出生后的头几个月内致命。存活的患者会出现进行性肾衰竭和肝纤维化。我们描述了分别为7岁和2岁的两姐妹，她们患有与胱氨酸尿症相关的儒内综合征。据我们所知，这是这两种常染色体隐性疾病首次报道的关联。
