Division of Anatomic Pathology Mayo Clinic Rochester Minnesota USA

Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

Division of Nephrology and Hypertension Department of Medicine Mayo Clinic Rochester Minnesota USA

Division of Pediatric Nephrology and Hypertension DHR Health Edinburg Texas USA

Research Unit of Rare Diseases Department of Pediatric and Adolescent Medicine 1st Faculty of Medicine Charles University Prague Czech Republic

Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina USA

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Fervenza F.C., Gavrilova R.H., Nasr S.H. CKD due to a novel mitochondrial DNA mutation: a case report. Am J Kidney Dis. 2019;73:273–277. PubMed

Connor T.M., Hoer S., Mallett A. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genet. 2017;13 PubMed PMC

Olinger E., Hofmann P., Kidd K. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney Int. 2020;98:717–731. PubMed

Blumenstiel B., DeFelice M., Birsoy O. Development and validation of a mass spectrometry-based assay for the molecular diagnosis of mucin-1 kidney disease. J Mol Diagn. 2016;18:566–571. PubMed

Kidd K., Vylet'al P., Schaeffer C. Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations. Kidney Int Rep. 2020;5:1472–1485. PubMed PMC

Zsurka G., Hampel K.G., Nelson I. Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNAPhe gene. Neurology. 2010;74 PubMed

Burke J.R., Inglis J.A., Craswell P.W. Juvenile nephronophthisis and medullary cystic disease—the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy) Clin Nephrol. 1982;18:1–8. PubMed

Autosomal dominant tubulointerstitial kidney disease: A review