Department of Nephrology and Renal Transplant Hospital de Santa Maria CHULN EPE Lisbon Portugal

Genetic Department of Hospital de Santa Maria CHULN EPE Lisbon Portugal

GenoMed Diagnósticos de Medicina Molecular S A Lisbon Portugal

Research Unit for Rare Diseases Department of Pediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University Prague and General University Hospital Prague Czech Republic

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

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Sparks M.A., Crowley S.D., Gurley S.B., et al. Classical renin-angiotensin system in kidney physiology. Compr Physiol. 2014;4:1201–1228. doi: 10.1002/cphy.c130040. PubMed DOI PMC

Gribouval O., Gonzales M., Neuhaus T., et al. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005;37:964–968. doi: 10.1038/ng1623. PubMed DOI

Zivna M., Kidd K., Zaidan M., et al. An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int. 2020;98:1589–1604. doi: 10.1016/j.kint.2020.06.041. PubMed DOI PMC

Fila M., Morinière V., Eckart P., et al. Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease. Pediatr Nephrol. 2020;35:1125–1128. doi: 10.1007/s00467-020-04524-4. PubMed DOI

Bleyer A.J., Zivná M., Hulková H., et al. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol. 2010;74:411–422. doi: 10.5414/cnp74411. PubMed DOI PMC

Centers for Disease Control and Prevention Postmarketing surveillance for angiotensin-converting enzyme inhibitor use during the first trimester of pregnancy--United States, Canada, and Israel, 1987–1995. Morb Mortal Wkly Rep. 1997;46:240–242. PubMed

Dilliott A.A., Wang J., Brown E., et al. A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis. Am J Med Genet A. 2020;182:2284–2290. doi: 10.1002/ajmg.a.61780. PubMed DOI

Campbell D.J. Clinical relevance of local renin angiotensin systems. Front Endocrinol (Lausanne) 2014;5:113. doi: 10.3389/fendo.2014.00113. PubMed DOI PMC

Eckardt K.U., Alper S.L., Antignac C., et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--a KDIGO consensus report. Kidney Int. 2015;88:676–683. doi: 10.1038/ki.2015.28. PubMed DOI