| Title |
Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study
|
|---|---|
| Published in |
Pediatric Nephrology, September 2018
|
| DOI | 10.1007/s00467-018-4040-1 |
| Pubmed ID | |
| Authors |
Nicholas E. Khan, Alexander Ling, Molly E. Raske, Laura A. Harney, Ann G. Carr, Amanda Field, Anne K. Harris, Gretchen M. Williams, Louis P. Dehner, Yoav H. Messinger, D. Ashley Hill, Kris Ann P. Schultz, Douglas R. Stewart |
| Abstract |
The DICER1 syndrome is a tumor-predisposition disorder caused by germline pathogenic variation in DICER1 and is associated with cystic nephroma and other renal neoplasms. Dicer1 mouse and rare human DICER1 syndrome case reports describe structural kidney and collecting system anomalies. We investigated renal function and the frequency of structural abnormalities of the kidney and collecting system in individuals with germline loss-of-function variants in DICER1. In this family-based cohort study, prospectively ascertained germline DICER1-mutation carriers (DICER1-carriers) and unaffected family controls were evaluated at the National Institutes of Health Clinical Center with renal ultrasound and comprehensive laboratory testing. Two radiologists reviewed the imaging studies from all participants for structural abnormalities, cysts, and tumors. Eighty-nine DICER1-carriers and 61 family controls were studied. Renal cysts were detected in 1/33 DICER1-carrier children without history of cystic nephroma. Similar proportions of adult DICER1-carriers (8/48; 17%) and controls (11/50; 22%) had ultrasound-detected renal cysts (P = 0.504). 8/89 (9%) DICER1-carriers harbored ultrasound-detected structural abnormalities of varying severity within the collecting system or kidney, nephrolithiasis, or nephrocalcinosis. None of the family controls (0/61) had similar findings on ultrasound (P = 0.02). No meaningful differences in renal laboratory values between DICER1-carriers and unaffected family controls were observed. Our report is the first to systematically characterize renal function and anatomy in a large prospective cohort of DICER1-carriers and DICER1-negative family controls. DICER1-carriers may be at increased risk of structural anomalies of the kidney or collecting system. The role for DICER1 in renal morphogenesis merits additional investigation. |
X Demographics
The data shown below were collected from the profiles of 5 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 5 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 60% |
| Science communicators (journalists, bloggers, editors) | 1 | 20% |
| Scientists | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 16 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 2 | 13% |
| Student > Bachelor | 2 | 13% |
| Student > Postgraduate | 2 | 13% |
| Student > Doctoral Student | 1 | 6% |
| Student > Ph. D. Student | 1 | 6% |
| Other | 3 | 19% |
| Unknown | 5 | 31% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 63% |
| Social Sciences | 1 | 6% |
| Psychology | 1 | 6% |
| Unknown | 4 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 February 2022.
All research outputs
#5,655,644
of 23,213,531 outputs
Outputs from Pediatric Nephrology
#910
of 3,604 outputs
Outputs of similar age
#97,568
of 335,861 outputs
Outputs of similar age from Pediatric Nephrology
#30
of 86 outputs
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We're also able to compare this research output to 86 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 65% of its contemporaries.