Carpentieri David, Barnhart Margaret F, Aleck Kyrieckos, Miloh Tamir, deMello Daphne
Pathology Division, Phoenix Children's Hospital, 1919 E Thomas Rd, Phoenix, AZ 85016, United States.
Anethesiology Dept., Loma Linda University Medical Center, 11234 Anderson St., Loma Linda, CA 92354.
Mol Genet Metab Rep. 2015 Jan 10;2:47-50. doi: 10.1016/j.ymgmr.2014.12.005. eCollection 2015 Mar.
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 located on the chromosome 14q11.2. LPI is most prevalent in Finland (1:50,000), Northern Japan (1:60,000) and Italy. Cases have also been reported in Spain and the United States. Here we report two siblings of Mexican descent. The older child was diagnosed at the age of three with severe chronic respiratory insufficiency leading to her demise. In contrast, the younger child was diagnosed soon after birth and dietary therapy has led to a stable life. Genetic analysis revealed a previously unreported deletion in the SLC7A7 gene. Additional research is needed to clarify the role of lysine in the pathophysiology of pulmonary proteinosis and herpes infections.
赖氨酸尿性蛋白不耐受症（LPI）是一种罕见的常染色体隐性疾病，由位于14q11.2染色体上的SLC7A7基因突变引起。LPI在芬兰（1:50,000）、日本北部（1:60,000）和意大利最为常见。西班牙和美国也报告过相关病例。在此我们报告两名墨西哥裔兄弟姐妹。年长的孩子三岁时被诊断出患有严重的慢性呼吸功能不全并最终死亡。相比之下，年幼的孩子出生后不久就被诊断出来，饮食疗法使其过上了稳定的生活。基因分析显示SLC7A7基因存在一个此前未报告的缺失。需要进一步研究以阐明赖氨酸在肺蛋白沉积症和疱疹感染病理生理学中的作用。
