Department of Pediatrics, Shiga University of Medical Science, Seta Tsukinowa-Cho, Otsu, Shiga, 520-2192, Japan.
Center of Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Int J Hematol. 2022 Oct;116(4):635-638. doi: 10.1007/s12185-022-03375-z. Epub 2022 May 9.
Lysinuric protein intolerance (LPI) (MIM#222700) is a rare autosomal recessive defect in bibasic amino acid transport caused by pathogenic variants in solute carrier family 7 member 7 gene ( SLC7A7). The symptoms begin after weaning from breast milk and include refusal of feeding, vomiting, and consequent failure to thrive. Some metabolic disorders, including LPI, are complicated by hemophagocytic lymphohistiocytosis (HLH); however, the frequency of HLH caused by inborn errors of metabolism is very rare in the HLH cohort. SLC7A7 consists of 11 exons, and has 66 known pathogenic variants. SLC7A7 is associated with HLH. Here, we report the case of a 32-year-old woman who presented with LPI and HLH. Genetic analysis revealed a novel compound heterozygosity in SLC7A7 with two pathogenic variants, c.713C>T (p. Sre238Phe) and c.625+1G>A (splicing acceptor site) inherited from her father and mother, respectively.
赖氨酸尿蛋白不耐受症（LPI）（MIM#222700）是一种罕见的常染色体隐性遗传缺陷，由溶质载体家族 7 成员 7 基因（SLC7A7）的致病性变异引起。症状在断奶后开始出现，包括拒绝进食、呕吐和随之而来的生长不良。一些代谢紊乱，包括 LPI，并发噬血细胞性淋巴组织细胞增生症（HLH）；然而，代谢性疾病引起的 HLH 在 HLH 队列中非常罕见。SLC7A7 由 11 个外显子组成，有 66 个已知的致病性变异。SLC7A7 与 HLH 有关。在这里，我们报告了一例 32 岁女性 LPI 和 HLH 的病例。基因分析显示 SLC7A7 存在一种新型复合杂合性，分别来自父亲和母亲的两个致病性变异 c.713C>T（p.Sre238Phe）和 c.625+1G>A（剪接受体位点）。
