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- Parasyri, M., et al.
(author)
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
- 2022
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In: Kidney Diseases. - : S. Karger AG. - 2296-9381 .- 2296-9357. ; 8:2
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Journal article (peer-reviewed)abstract
- 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.
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| 2. |
- Ilmarinen, P., et al.
(author)
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Cluster Analysis of Finnish Population-Based Adult-Onset Asthma Patients
- 2023
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In: Journal of Allergy and Clinical Immunology-in Practice. - 2213-2198. ; 11:10, s. 3086-3096
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Journal article (peer-reviewed)abstract
- BACKGROUND: Phenotypes of adult asthma have been identified in previous studies but rarely in population-based settings.OBJECTIVE: To identify clusters of adult-onset asthma in a Finnish population-based study on subjects born before 1967.METHODS: We used population-based data from 1350 asthmatics with adult-onset asthma (Adult Asthma in Finland) from Finnish national registers. Twenty-eight covariates were selected based on literature. The number of covariates was reduced by using factor analysis before cluster analysis.RESULTS: Five clusters (CLU1-CLU5) were identified, 3 clusters with late-onset adult asthma (onset >= 40 years) and 2 clusters with onset at earlier adulthood (<40 years). Subjects in CLU1 (n = 666) had late-onset asthma and were nonobese, symptomatic, and predominantly female with few respiratory infections during childhood. CLU2 (n = 36) consisted of subjects who had earlier-onset asthma, were predominantly female, obese with allergic asthma, and had recurrent respiratory infections. Subjects in CLU3 (n = 75) were nonobese, older, and predominantly men with late-onset asthma, smoking history, comorbidities, severe asthma, least allergic diseases, low education, many siblings, and childhood in rural areas. CLU4 (n = 218) was a late-onset cluster consisting of obese females with comorbidities, asthma symptoms, and low education level. Subjects in CLU5 (n [ 260) had earlier onset asthma, were nonobese, and predominantly allergic females.CONCLUSIONS: Our population-based adult-onset asthma clusters take into account several critical factors such as obesity and smoking, and identified clusters that partially overlap with clusters identified in clinical settings. Results give us a more profound understanding of adult-onset asthma phenotypes and support personalized management. (c) 2023 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology. This is an open access article under the CC BY license (http://creativecommons.org/licenses/ by/4.0/). (J Allergy Clin Immunol Pract 2023;11:3086-96)
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