ArticlePediatric nephrology (Berlin, Germany)2024
Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease.
Article in Pediatric nephrology (Berlin, Germany), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.
- Kidney transplantation in mitochondrial diseases: a systematic review.Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo.EMBO molecular medicine · 2026Article
- Immunosuppression in children with primary mitochondrial diseases after kidney transplantation: insight from case series of RMND1-related disease.Pediatric nephrology (Berlin, Germany) · 2026Article
- Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.Pediatric nephrology (Berlin, Germany) · 2025Article
- Role of Comprehensive Renal Genetic Testing in Diagnosing aClinical case reports · 2025Article
- Underestimated reason of hyperkalemia in diabetic patients: type IV renal tubular acidosis- mini review.Frontiers in clinical diabetes and healthcare · 2025Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRMND1 is a nuclear gene needed for proper function of mitochondria. A pathogenic gene will cause multiple oxidative phosphorylation defects. A renal phenotype consisting of hyponatremia, hyperkalemia, and acidosis is frequently reported, previously considered to be due to aldosterone insensitivity.
methodsClinical features and pathophysiology of three patients will be reported. DNA of these patients was subjected to exome screening.
resultsIn the first family, one pathogenic heterozygous and one highly probable heterozygous mutation were detected. In the second family, a homozygous pathogenic mutation was present. The electrolyte disbalance was not due to aldosterone insensitivity but to low plasma aldosterone concentration, a consequence of low plasma renin activity. This disbalance can be treated. In all three patients, the kidney function declined. In the first family, both children suffered from an unexplained arterial thrombosis with dire consequences.
conclusionsHyporeninemic hypoaldosteronism is the mechanism causing the electrolyte disbalance reported in patients with RMND1 mutations, and can be treated.
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