{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:16:17Z","timestamp":1792048577324,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,9,30]],"date-time":"2019-09-30T00:00:00Z","timestamp":1569801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01 DK078121"],"award-info":[{"award-number":["R01 DK078121"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["GM07526\u201041"],"award-info":[{"award-number":["GM07526\u201041"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The nuclear encoded gene <jats:italic>RMND1<\/jats:italic> (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1\u2010related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an infantile\u2010onset multisystem disease characterized by severe hypotonia, global developmental delay, failure to thrive, sensorineural hearing loss, and lactic acidosis. Renal disease, however, appears to be one of the more prominent features of RRMD, affecting patients at significantly higher numbers compared to other mitochondrial diseases. We report the clinical, histological, and molecular findings of four RRMD patients across three academic institutions with a focus on the renal manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four patients were identified for the purpose of this study, all of whom had molecular confirmation at the time of inclusion, which included the common pathogenic variant c.713A&gt;G (p.N238S) as well as the three rare variants: c.485delC (p.P162fs), c.533C&gt;T (p.T178M), and c.1317\u00a0+\u00a01G&gt;C splice donor variant. Medical history and laboratory findings were collected from the medical records and medical providers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this study, all four patients developed renal disease characterized as tubulopathy (3\/4), renal tubular acidosis (2\/4), interstitial nephritis (1\/4), and\/or end\u2010stage renal disease (4\/4) necessitating renal transplantation (2\/4). Histological evaluation of renal biopsy specimens revealed generalized tubular atrophy and on electron microscopy, abundant mitochondria with pleomorphism and abnormal cristae.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our experience with RRMD demonstrates a specific pattern of renal disease manifestations and clinical course. Patients are unlikely to respond to traditional chronic kidney disease (CKD) treatments, making early diagnosis and consideration of renal transplantation paramount to the management of RRMD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.973","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T05:25:48Z","timestamp":1569907548000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Characterization of the renal phenotype in <i>RMND1<\/i>\u2010related mitochondrial disease"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4657-6454","authenticated-orcid":false,"given":"Brian J.","family":"Shayota","sequence":"first","affiliation":[{"name":"Texas Children's Hospital Houston TX USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nhon 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