| Title |
The use of ocular abnormalities to diagnose X-linked Alport syndrome in children
|
|---|---|
| Published in |
Pediatric Nephrology, August 2008
|
| DOI | 10.1007/s00467-008-0759-4 |
| Pubmed ID | |
| Authors |
Ke Wei Zhang, Deb Colville, Rachel Tan, Colin Jones, Stephen I. Alexander, Jeffrey Fletcher, Judy Savige |
| Abstract |
The diagnosis of X-linked Alport syndrome is often difficult, but the demonstration of lenticonus and retinopathy may facilitate the diagnosis in adult patients. The aim of this study was to determine the diagnostic usefulness of ocular examination in children. Fourteen families with at least one affected child were studied clinically, and COL4A5 mutations were determined. The families included 15 affected boys (median age 11 years, range 4-19 years). Two boys (13%) had renal failure, nine (60%) had a known hearing loss, one (7%) had lenticonus and five (33%) had a central (4/15, 27%) or peripheral (4/14, 29%) retinopathy. Lenticonus and retinopathy were first noted in 14 and 11 year olds, respectively. All boys with retinopathy had a hearing loss. The early onset retinopathy was associated with a severe mutation (Q1383X). Eight families (8/14, 57%) comprised only sons and mothers, and two mothers (2/12, 17%) had the retinopathy. Six boys (40%) would have been diagnosed with Alport syndrome on the basis of their own or their mother's ocular examinations. None of the six girls (median age 8 years, range 7-14 years) had ocular abnormalities. Hearing loss is usually highly sensitive for the diagnosis of Alport syndrome, but ocular examination of boys and their mothers at the initial consultation is a non-invasive test that is helpful in up to 40% cases. |
Mendeley readers
The data shown below were compiled from readership statistics for 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 5% |
| Unknown | 20 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 14% |
| Student > Bachelor | 3 | 14% |
| Student > Doctoral Student | 2 | 10% |
| Other | 2 | 10% |
| Researcher | 2 | 10% |
| Other | 4 | 19% |
| Unknown | 5 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 57% |
| Psychology | 2 | 10% |
| Biochemistry, Genetics and Molecular Biology | 1 | 5% |
| Unknown | 6 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 25 November 2008.
All research outputs
#7,452,489
of 22,783,848 outputs
Outputs from Pediatric Nephrology
#1,484
of 3,537 outputs
Outputs of similar age
#28,991
of 82,260 outputs
Outputs of similar age from Pediatric Nephrology
#5
of 8 outputs
Altmetric has tracked 22,783,848 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,537 research outputs from this source. They receive a mean Attention Score of 4.9. This one is in the 45th percentile – i.e., 45% of its peers scored the same or lower than it.
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