PDF(Pubmed)
Abstract：
UNASSIGNED: Lysinuric protein intolerance (LPI) is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7 (SLC7A7) gene.
UNASSIGNED: We presented two siblings with LPI, carrying novel mutations of c.776delT (p.L259Rfs*18) and c.155G>T (p.G52V) in SLC7A7. The younger sibling, preferring protein-rich foods, showed severe symptoms, including alveolar proteinosis, macrophage activation syndrome, severe diarrhea, and disturbance of consciousness with involuntary movements. In contrast, the elder sibling only had mild symptoms, likely due to aversion to protein-rich food since toddler age.
UNASSIGNED: LPI is a congenital genetic metabolic disease with multi-system involvement. Initiating appropriate protein-restricted diet therapy as soon as possible could help prevent the progression of LPI.
UNASSIGNED: We presented two siblings with LPI, carrying novel mutations of c.776delT (p.L259Rfs*18) and c.155G>T (p.G52V) in SLC7A7. The younger sibling, preferring protein-rich foods, showed severe symptoms, including alveolar proteinosis, macrophage activation syndrome, severe diarrhea, and disturbance of consciousness with involuntary movements. In contrast, the elder sibling only had mild symptoms, likely due to aversion to protein-rich food since toddler age.
UNASSIGNED: LPI is a congenital genetic metabolic disease with multi-system involvement. Initiating appropriate protein-restricted diet therapy as soon as possible could help prevent the progression of LPI.
摘要：
■赖氨酸尿蛋白不耐受（LPI）是一种罕见的遗传性疾病，由溶质载体家族7A成员7（SLC7A7）基因突变引起。
■我们向两个兄弟姐妹展示了LPI，携带c.776delT的新突变（p。L259Rfs*18）和c.155G>T（p。G52V)在SLC7A7。年轻的兄弟姐妹，更喜欢富含蛋白质的食物，表现出严重的症状，包括肺泡蛋白沉积,巨噬细胞活化综合征,严重的腹泻,和无意识运动引起的意识障碍。相比之下,哥哥姐姐只有轻微的症状，可能是由于从幼儿年龄开始厌恶富含蛋白质的食物。
■LPI是一种多系统参与的先天性遗传代谢疾病。尽快启动适当的蛋白质限制饮食治疗可能有助于预防LPI的进展。
■我们向两个兄弟姐妹展示了LPI，携带c.776delT的新突变（p。L259Rfs*18）和c.155G>T（p。G52V)在SLC7A7。年轻的兄弟姐妹，更喜欢富含蛋白质的食物，表现出严重的症状，包括肺泡蛋白沉积,巨噬细胞活化综合征,严重的腹泻,和无意识运动引起的意识障碍。相比之下,哥哥姐姐只有轻微的症状，可能是由于从幼儿年龄开始厌恶富含蛋白质的食物。
■LPI是一种多系统参与的先天性遗传代谢疾病。尽快启动适当的蛋白质限制饮食治疗可能有助于预防LPI的进展。
