| Title |
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
|
|---|---|
| Published in |
Pediatric Nephrology, July 2018
|
| DOI | 10.1007/s00467-018-3958-7 |
| Pubmed ID | |
| Authors |
Marijn F. Stokman, Bert van der Zwaag, Nicole C. A. J. van de Kar, Mieke M. van Haelst, Albertien M. van Eerde, Joost W. van der Heijden, Hester Y. Kroes, Elly Ippel, Annelien J. A. Schulp, Koen L. van Gassen, Iris A. L. M. van Rooij, Rachel H. Giles, Philip L. Beales, Ronald Roepman, Heleen H. Arts, Ernie M. H. F. Bongers, Kirsten Y. Renkema, Nine V. A. M. Knoers, Jeroen van Reeuwijk, Marc R. Lilien |
| Abstract |
Nephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent. This study investigates clinical characteristics, initial symptoms, and genetic defects in a cohort with nephronophthisis-related ciliopathy, to improve early detection and genetic counseling. Forty patients from 36 families with nephronophthisis-related ciliopathy were recruited at university medical centers and online. Comprehensive clinical and genotypic data were recorded. Patients without molecular diagnosis were offered genetic analysis. Of 40 patients, 45% had isolated nephronophthisis, 48% syndromic diagnosis, and 7% nephronophthisis with extrarenal features not constituting a recognizable syndrome. Patients developed ESRD at median 13 years (range 5-47). Median age of symptom onset was 9 years in both isolated and syndromic forms (range 5-26 vs. 5-33). Common presenting symptoms were fatigue (42%), polydipsia/polyuria (33%), and hypertension (21%). Renal ultrasound showed small-to-normal-sized kidneys, increased echogenicity (65%), cysts (43%), and abnormal corticomedullary differentiation (32%). Renal biopsies in eight patients showed nonspecific signs of chronic kidney disease (CKD). Twenty-three patients (58%) had genetic diagnosis upon inclusion. Thirteen of those without a genetic diagnosis gave consent for genetic testing, and a cause was identified in five (38%). Nephronophthisis is genetically and phenotypically heterogeneous and should be considered in children and young adults presenting with persistent fatigue and polyuria, and in all patients with unexplained CKD. As symptom onset can occur into adulthood, presymptomatic monitoring of kidney function in syndromic ciliopathy patients should continue until at least age 30. |
X Demographics
The data shown below were collected from the profiles of 15 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 3 | 20% |
| Brazil | 1 | 7% |
| United Kingdom | 1 | 7% |
| Australia | 1 | 7% |
| Mexico | 1 | 7% |
| Canada | 1 | 7% |
| Unknown | 7 | 47% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 11 | 73% |
| Scientists | 2 | 13% |
| Science communicators (journalists, bloggers, editors) | 1 | 7% |
| Practitioners (doctors, other healthcare professionals) | 1 | 7% |
Mendeley readers
The data shown below were compiled from readership statistics for 63 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 63 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 8 | 13% |
| Student > Master | 8 | 13% |
| Student > Postgraduate | 6 | 10% |
| Other | 4 | 6% |
| Researcher | 3 | 5% |
| Other | 8 | 13% |
| Unknown | 26 | 41% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 16 | 25% |
| Biochemistry, Genetics and Molecular Biology | 7 | 11% |
| Nursing and Health Professions | 4 | 6% |
| Psychology | 2 | 3% |
| Social Sciences | 2 | 3% |
| Other | 2 | 3% |
| Unknown | 30 | 48% |
Attention Score in Context
This research output has an Altmetric Attention Score of 9. 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 07 August 2019.
All research outputs
#4,057,437
of 24,612,602 outputs
Outputs from Pediatric Nephrology
#603
of 3,908 outputs
Outputs of similar age
#73,509
of 332,424 outputs
Outputs of similar age from Pediatric Nephrology
#18
of 72 outputs
Altmetric has tracked 24,612,602 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,908 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.1. This one has done well, scoring higher than 84% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 332,424 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 77% of its contemporaries.
We're also able to compare this research output to 72 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.