| Title |
Clinical and molecular aspects of distal renal tubular acidosis in children
|
|---|---|
| Published in |
Pediatric Nephrology, February 2017
|
| DOI | 10.1007/s00467-016-3573-4 |
| Pubmed ID | |
| Authors |
Martine T. P. Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G. van’t Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer |
| Abstract |
Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis. Of the 24 children included in the study, genetic diagnosis was confirmed in 19 patients, with six children having mutations in ATP6V1B1, ten in ATP6V0A4 and three in SLC4A1; molecular diagnosis was not available for five children. Five novel mutations were detected (2 in ATP6V1B1 and 3 in ATP6V0A4). Two-thirds of patients presented with features of proximal tubular dysfunction leading to an erroneous diagnosis of renal Fanconi syndrome. The proximal tubulopathy disappeared after resolution of acidosis, indicating the importance of following proximal tubular function to establish the correct diagnosis. Growth retardation with a height below -2 standard deviation score was found in ten patients at presentation, but persisted in only three of these children once established on alkali treatment. Sensorineural hearing loss was found in five of the six patients with an ATP6V1B1 mutation. Only one patient with an ATP6V0A4 mutation had sensorineural hearing loss during childhood. Nine children developed medullary cysts, but without apparent clinical consequences. Cyst development in this cohort was not correlated with age at therapy onset, molecular diagnosis, growth parameters or renal function. In general, the prognosis of dRTA is good in children treated with alkali. |
X Demographics
The data shown below were collected from the profiles of 13 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Mexico | 2 | 15% |
| United States | 1 | 8% |
| Netherlands | 1 | 8% |
| Unknown | 9 | 69% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 11 | 85% |
| Science communicators (journalists, bloggers, editors) | 1 | 8% |
| Scientists | 1 | 8% |
Mendeley readers
The data shown below were compiled from readership statistics for 60 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 60 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 15% |
| Student > Postgraduate | 6 | 10% |
| Student > Master | 5 | 8% |
| Student > Ph. D. Student | 4 | 7% |
| Professor > Associate Professor | 4 | 7% |
| Other | 11 | 18% |
| Unknown | 21 | 35% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 27 | 45% |
| Biochemistry, Genetics and Molecular Biology | 4 | 7% |
| Nursing and Health Professions | 2 | 3% |
| Arts and Humanities | 1 | 2% |
| Philosophy | 1 | 2% |
| Other | 4 | 7% |
| Unknown | 21 | 35% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 29 June 2018.
All research outputs
#5,055,162
of 25,126,845 outputs
Outputs from Pediatric Nephrology
#832
of 4,004 outputs
Outputs of similar age
#98,183
of 433,699 outputs
Outputs of similar age from Pediatric Nephrology
#11
of 79 outputs
Altmetric has tracked 25,126,845 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,004 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.2. This one has done well, scoring higher than 79% of its peers.
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We're also able to compare this research output to 79 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 87% of its contemporaries.