Case report of sphingosine phosphate lyase insufficiency syndrome
10.3760/cma.j.cn101070-20210907-01090
- VernacularTitle:鞘氨醇磷酸裂解酶不全综合征1例
- Author:
Xin CHEN
1
;
Junchen FANG
;
Chunzhen LI
;
Lanlan GE
;
Ling LIU
Author Information
1. 河北省儿童医院肾脏免疫科，石家庄 050031
- Keywords:
Sphingosine phosphate lyase insufficiency syndrome;
Sphingosine-1-phosphate lyase deficiency;
Steroid-resistant nephrotic syndrome type 14
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(17):1347-1350
- CountryChina
- Language:Chinese
-
Abstract:
The data of a child with sphingosine phosphate lyase insufficiency syndrome (SPLIS) admitted to Children′s Hospital of Hebei Province on February 4, 2020 were retrospectively analyzed.The child had edema, complicated with ichthyosis, adrenal calcification, and hearing loss from the early infancy.Laboratory examination results suggested a low albumin level, hypercholesterolemia, a high proteinuria level, abnormal liver and renal functions, and hyponatremia.The child gave up treatment and died at home.Whole Exome Sequencing (WES) results showed two hete-rozygous mutations of SGPL1 gene (chr10: 72604336, c.134G>A, p.W45X; chr10: 72629563, c.719G>T, p.S240I). SPLIS is inherited in an autosomal recessive manner.It starts in infancy, and affects the kidney, skin, endocrine, nervous and immune systems.It is suggested that SPLIS patients should take genetic examination.Early diagnosis, appropriate intervention, and vitamin B 6 treatment may relieve some symptoms of SPLIS patients.Adeno-associated virus mediated SGPL1 gene replacement therapy can be a novel cure of SPLIS and is worthy of investigation.
