Work

P275: Expanding the phenotype of AGTR1-related autosomal recessive renal tubular dysgenesis: Clinical considerations for neonatal care and genetic counseling

Year: 2024

Type: article

Abstract: Renal tubular dysgenesis (RTD) is a rare and severe autosomal recessive disorder characterized by poorly developed or absent proximal tubules. RTD is caused by variants in any of four genes, ACE, AGT, REN, or AGTR1, which function in the renin-angiotensin system (RAS). RTD leads to a constellation of findings including fetal anuria, an/oligohydramnios, Potter sequence, pulmonary hypoplasia, hypotension, and abnormal skull development. Historically, this has been viewed as a lethal condition, but some cases have survived the critical neonatal period.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101171

Authors: Roya Mostafavi, Nora Urraca, Stephen Miller, Ajay Talati, Eniko Pivnick

Institutions: Le Bonheur Children's Hospital, University of Tennessee Health Science Center

Language: English

Topic: Renin-Angiotensin System Studies

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200