WFRF:(Hikmat O.)
Sökning: WFRF:(Hikmat O.) > Renal Phenotype in ...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04695naa a2200565 4500 | |
| 001 | oai:gup.ub.gu.se/315417 | |
| 003 | SwePub | |
| 008 | 240528s2022 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3154172 URI |
| 024 | 7 | a https://doi.org/10.1159/0005211482 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Parasyri, M.4 aut |
| 245 | 1 0 | a Renal Phenotype in Mitochondrial Diseases: A Multicenter Study |
| 264 | c 2022-01-24 | |
| 264 | 1 | b S. Karger AG,c 2022 |
| 520 | a Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to generate a protocol of presymptomatic assessment and monitoring of renal function in patients with a defined mitochondrial disease. Methods: A multicenter, retrospective cohort study was performed by the Mitochondrial Clinical and Research Network (MCRN). Patients of any age with renal manifestations associated with a genetically verified mitochondrial disease were included from 8 expert European centers specializing in mitochondrial diseases: Gothenburg, Oulu, Copenhagen, Bergen, Helsinki, Stockholm, Rotterdam, and Barcelona. Results: Of the 36 patients included, two-thirds had mitochondrial DNA-associated disease. Renal manifestations were the first sign of mitochondrial disease in 19%, and renal involvement was first identified by laboratory tests in 57% of patients. Acute kidney injury occurred in 19% of patients and was the first sign of renal disease in the majority of these. The most common renal manifestation was chronic kidney disease (75% with stage 2 or greater), followed by tubulopathy (44.4%), the latter seen mostly among patients with single large-scale mitochondrial DNA deletions. Acute kidney injury and tubulopathy correlated with worse survival outcome. The most common findings on renal imaging were increased echogenicity and renal dysplasia/hypoplasia. Renal histology revealed focal segmental glomerulosclerosis, nephrocalcinosis, and nephronophthisis. Conclusion: Acute kidney injury is a distinct renal phenotype in patients with mitochondrial disease. Our results highlight the importance to recognize renal disease as a sign of an underlying mitochondrial disease. Acute kidney injury and tubulopathy are 2 distinct indicators of poor survival in patients with mitochondrial diseases. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Urologi och njurmedicin0 (SwePub)302142 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Urology and Nephrology0 (SwePub)302142 hsv//eng |
| 653 | a Mitochondrial disease | |
| 653 | a Acute kidney injury | |
| 653 | a Mitochondrial DNA | |
| 653 | a Renal | |
| 653 | a manifestations | |
| 653 | a kidney | |
| 653 | a mutations | |
| 653 | a children | |
| 653 | a Urology & Nephrology | |
| 700 | 1 | a Brandström, Per,d 1959u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xbranp |
| 700 | 1 | a Uusimaa, J.4 aut |
| 700 | 1 | a Ostergaard, E.4 aut |
| 700 | 1 | a Hikmat, O.4 aut |
| 700 | 1 | a Isohanni, P.4 aut |
| 700 | 1 | a Naess, K.4 aut |
| 700 | 1 | a de Coo, I. F. M.4 aut |
| 700 | 1 | a Osorio, A. N.4 aut |
| 700 | 1 | a Nuutinen, M.4 aut |
| 700 | 1 | a Lindberg, C.4 aut |
| 700 | 1 | a Bindoff, L. A.4 aut |
| 700 | 1 | a Tulinius, Mar,d 1953u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xtulim |
| 700 | 1 | a Darin, Niklas,d 1964u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xdarin |
| 700 | 1 | a Sofou, Kalliopiu Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xsofka |
| 710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org |
| 773 | 0 | t Kidney Diseasesd : S. Karger AGg 8:2q 8:2x 2296-9381x 2296-9357 |
| 856 | 4 | u https://www.karger.com/Article/Pdf/521148 |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/315417 |
| 856 | 4 8 | u https://doi.org/10.1159/000521148 |
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