Journal article
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management
Genetics in medicine, Vol.22(6), pp.1025-1035
03/17/2020
DOI: 10.1038/s41436-020-0772-y
PMID: 32203225
Abstract
A Renal Genetics Clinic (RGC) was established to optimize diagnostic testing, facilitate genetic counseling, and direct clinical management.
Retrospective review of patients seen over a two-year period in the RGC.
One hundred eleven patients (mean age: 39.9 years) were referred to the RGC: 65 for genetic evaluation, 19 for management of a known genetic disease, and 18 healthy living kidney donors (LKDs) and their 9 related transplant candidates for screening. Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. Four of 18 LKDs were referred only for APOL1 screening. For the remaining 14 LKDs, their transplant candidates were first tested to establish a genetic diagnosis. Five LKDs tested negative for the familial genetic variant, four were positive for their familial variant. In five transplant candidates, a genetic variant could not be identified.
An RGC that includes genetic counseling enhances care of renal patients by improving diagnosis, directing management, affording presymptomatic family focused genetic counseling, and assisting patients and LKDs to make informed decisions.
Details
- Title: Subtitle
- Initial experience from a renal genetics clinic demonstrates a distinct role in patient management
- Creators
- Christie P Thomas - Veterans Affairs Medical Center, Iowa City, IA, USA. christie-thomas@uiowa.eduMargaret E Freese - Departments of Internal Medicine, University of Iowa, Iowa City, IA, USAAgnes Ounda - Departments of Internal Medicine, University of Iowa, Iowa City, IA, USAJennifer G Jetton - Departments of Pediatrics, University of Iowa, Iowa City, IA, USAMyrl Holida - Departments of Pediatrics, University of Iowa, Iowa City, IA, USALama Noureddine - Departments of Internal Medicine, University of Iowa, Iowa City, IA, USARichard J Smith - The Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA, USA
- Resource Type
- Journal article
- Publication Details
- Genetics in medicine, Vol.22(6), pp.1025-1035
- DOI
- 10.1038/s41436-020-0772-y
- PMID
- 32203225
- NLM abbreviation
- Genet Med
- ISSN
- 1098-3600
- eISSN
- 1530-0366
- Publisher
- United States
- Language
- English
- Date published
- 03/17/2020
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Obstetrics and Gynecology; Otolaryngology; Internal Medicine
- Record Identifier
- 9983985905102771
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