Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome.

摘要: Objective Systemic capillary leak syndrome (SCLS) is a rare disorder that presents with episodes of hypovolemic shock. The extent to which genetic abnormalities contribute SCLS unknown. We identified pediatric and adult cohorts characteristic clinical courses. sought describe the characteristics both cohorts, identify possible contribution SCLS, demonstrate whole-exome sequencing (WES) may be conducted by critical care providers. Design Prospective observational study WES nine eight patients available unaffected first-degree relatives. Setting Tertiary children's hospitals referral research laboratory. Patients Children adults SCLS. Interventions None. Measurements relatives underwent WES. Data were analyzed for homozygous, biallelic, de novo, heterozygous variants allelic enrichment metabolic pathway analyses. Main results presented at younger age similar those experienced adults. All satisfactory No overlapping gene or pathways across all patients. Multiple candidate genes homozygous biallelic mutations in individual subjects There was no significant variants. Conclusions children are similar. did not uniform germline exomic etiology several future research. viable way providers investigate diseases presumed contributions.