Skip Navigation
Menu
Letters |17 July 2018

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

Krzysztof Kiryluk, MD, MS; Emily Groopman, BA; Hila Rasouly, PhD; Christine K. Garcia, MD; Ali G. Gharavi, MD

Article, Author, and Disclosure Information
Author, Article, and Disclosure Information
×
FULL TEXT
IN RESPONSE:
We studied patients carefully selected for familial, early-onset, or undiagnosed nephropathy; DiscovEHR assessed a general population recruited from a local health care system. Differences in patient ascertainment and phenotyping may therefore account for the seemingly discrepant findings. Moreover, distinguishing between phenotypic expansion for a known genetic disorder and discovery of a new human disease gene is important in assessing gene–disease associations. Heterozygous mutations in PARN cause dominant telomeropathy (Online Mendelian Inheritance in Man 616371); this phenotype is characterized by multiorgan fibrosis, including that involving the lungs, bone marrow, and liver (1–4). We report TIN as a phenotypic expansion of PARN mutations on the basis of a parent–child pair with tubulointerstitial fibrosis with dysplastic features on kidney biopsy. The third PARN mutation carrier had unexplained nephropathy with features consistent with TIN (normal kidney size, bland urine sediment, no diabetes, and no proteinuria). The phenotypic expansion for PARN mutations is thus supported by highly specific kidney biopsy findings in 2 patients and is consistent with PARN mutation carriers' known predisposition to organ fibrosis (1, 4).
FULL TEXT
PDF
Not Available
Citations
Citation

Kiryluk K, Groopman E, Rasouly H, Garcia CK, Gharavi AG. Whole-Exome Sequencing in Adults With Chronic Kidney Disease. Ann Intern Med. ;169:132–133. doi: 10.7326/L18-0207

Download citation file:

© 2019

×
Permissions

Published: Ann Intern Med. 2018;169(2):132-133.

DOI: 10.7326/L18-0207

©
2018 American College of Physicians
0 Citations
CONTINUE WITH LIMITED ACCESS
Annals of Internal Medicine
To receive access to the full text of freely available articles, alerts, and more. You will be directed to acponline.org to complete your registration.
×
acp link acp
silverchair link silverchair

Copyright © 2019 American College of Physicians. All Rights Reserved.

Print ISSN: 0003-4819 | Online ISSN: 1539-3704

Privacy Policy

|

Conditions of Use

This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy. | Accept
×

You need a subscription to this content to use this feature.

×
PDF Downloads Require Access to the Full Article.
Annals of Internal Medicine
To receive access to the full text of freely available articles, alerts, and more. You will be directed to acponline.org to complete your registration.
×
Access to this Free Content Requires Users to be Registered and Logged In. Please Choose One of the Following Options
Annals of Internal Medicine
To receive access to the full text of freely available articles, alerts, and more. You will be directed to acponline.org to complete your registration.
×