期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 167, 期 7, 页码 1654-1658出版社
WILEY
DOI: 10.1002/ajmg.a.37067
关键词
ACE; renal tubular dysgenesis; oligohydramnios; next generation sequencing; Neonatal Intensive Care Unit; Potter sequence
资金
- CHAMO-Innovation Fund
- Care4Rare Canada Consortium
- Genome Canada
- Canadian Institutes of Health Research
- Ontario Genomics Institute
- Ontario Research Fund
- Genome Quebec
- Children's Hospital of Eastern Ontario Foundation
- CIHR Institute of Genetics Clinical Investigatorship Award
We present the investigation and management of a premature, hypotensive neonate born after a pregnancy complicated by anhydramnios to highlight the impact of early and informed management for rare kidney disease. Vasopressin was used to successfully treat refractory hypotension and anuria in the neonate born at 27 weeks of gestation. Next generation sequencing of a targeted panel of genes was then performed in the neonate and parents. Subsequently, two compound heterozygous deletions leading to frameshift mutations were identified in the angiotensin 1-converting enzyme gene ACE; exon 5: c.820_821delAG (p.Arg274Glyfs*117) and exon24: c.3521delG (p.Gly1174Alafs*12), consistent with a diagnosis of renal tubular dysgenesis. In light of the molecular diagnosis, identification, and treatment of associated low aldosterone level resulted in further improvement in renal function and only mild residual chronic renal failure is present at 14 months of age. Truncating alterations in ACE most often result in fetal demise during gestation or in the first days of life and typically as a result of the Potter sequence. The premature delivery, and serendipitous early treatment with vasopressin, and then later fludrocortisone, resulted in an optimal outcome in an otherwise lethal condition. (C) 2015 Wiley Periodicals, Inc.
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