Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Division of Nephrology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A. 2022 Nov;188(11):3312-3317. doi: 10.1002/ajmg.a.62956. Epub 2022 Aug 16.
Sphingosine Lyase Insufficiency Syndrome (SPLIS) or SGPL1 Deficiency is a newly described entity that is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency, lymphopenia, ichthyosis, and/or endocrine and neurologic abnormalities. The earliest identification of SGPL1 pathogenic variants in association with this syndrome was reported in 2017. Since then, at least 36 patients have been reported with this pediatric syndrome. Here, we report a new patient with SPLIS who had a prenatal finding of adrenal calcifications, congenital nephrotic syndrome, and abnormal newborn screening concerning for Severe Combined Immunodeficiency. We conclude that SPLIS is a clinically recognizable condition with prenatal onset. This case should increase awareness of SPLIS in the differential diagnosis for adrenal calcifications. We present a case on the severe end of the clinical spectrum of SPLIS, and a review of the literature.
鞘氨醇激酶缺乏症（SPLIS）或 SGPL1 缺乏症是一种新描述的疾病实体，其特征为激素抵抗型肾病综合征、原发性肾上腺功能不全、淋巴细胞减少症、鱼鳞癣、和/或内分泌和神经异常。最早在 2017 年报道了 SGPL1 致病性变异与该综合征相关联。自那时以来，至少有 36 例儿科综合征患者被报道。在此，我们报告了一例新的 SPLIS 患者，其产前发现肾上腺钙化、先天性肾病综合征和新生儿筛查异常，提示严重联合免疫缺陷。我们得出结论，SPLIS 是一种具有产前发病的可识别的临床病症。该病例应提高对肾上腺钙化鉴别诊断中 SPLIS 的认识。我们报告了一例临床谱严重端的 SPLIS 病例，并对文献进行了回顾。
