Variable presentations of rare genetic renal interstitial diseases. Clin J Am Soc Nephrol. 2014;9:437-9. [ Links ] 11. Eckardt K-U, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, et al. [scielo.isciii.es]

Discovery of a novel mutation in the REN gene in patient with chronic progressive kidney disease of unknown etiology presenting with acute spontaneous carotid artery dissection. J Stroke Cerebrovasc Dis. 2019;28:104302. [ncbi.nlm.nih.gov]

Acid, basic and neutral peptidases present different profiles in chromophobe renal cell carcinoma and in oncocytoma. Am J Physiol-Renal Physiol 2008; 294: 850-8. Lacson A, Bernstein J, Ridson RA, Gilbert-Barness E. Renal System. [patologia.es]

• Loss of Appetite

  In very advanced kidney disease (right before the need for dialysis or kidney transplant), patients can develop loss of appetite, nausea and fatigue.[1][2][4] Last updated: 3/4/2019 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

• Kidney Failure

  Kidney failure may be treated with dialysis and kidney transplant. ADTKD-MUC1 is very rare. [rarediseases.info.nih.gov]

  Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009;85:204–13. [ncbi.nlm.nih.gov]

  Kidney Int. 2011;80:768-76. [ Links ] 17. Zivná M, Hulková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. [scielo.isciii.es]

• Small Kidney

  Gout 0001997 Hypertension 0000822 Hyperuricemia High blood uric acid level 0002149 Hypotension Low blood pressure 0002615 Impaired renal uric acid clearance 0004732 Renal cortical atrophy 0002048 Renal corticomedullary cysts 0000108 Renal hypoplasia Small [rarediseases.info.nih.gov]

• Creatinine Increased

  Elevated creatinine High blood creatinine level Increased creatinine Increased serum creatinine [ more ] 0003259 Glomerular sclerosis 0000096 Gout 0001997 Hypertension 0000822 Hyperuricemia High blood uric acid level 0002149 Hypotension Low blood pressure [rarediseases.info.nih.gov]

• Creatinine Increased

  Elevated creatinine High blood creatinine level Increased creatinine Increased serum creatinine [ more ] 0003259 Glomerular sclerosis 0000096 Gout 0001997 Hypertension 0000822 Hyperuricemia High blood uric acid level 0002149 Hypotension Low blood pressure [rarediseases.info.nih.gov]

Treatment Treatment The treatment of autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) is based on managing the symptoms. High blood pressure can be treated with medications. [rarediseases.info.nih.gov]

Anemia treatment with erythropoietin in pregnant renal recipients. Transplant Proc. 2011;43:2970–2. [ncbi.nlm.nih.gov]

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol. 2010;74:411-22. [ Links ] 40. Kmoch S, Živná M, Bleyer AJ. [scielo.isciii.es]

The condition does not come back in the transplanted kidney [4][5] Last updated: 3/4/2019 Prognosis Prognosis The long-term outlook for people with autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADKTD-MUC1) is good, though [rarediseases.info.nih.gov]

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int. 2011;80:768-76. [ Links ] 17. Zivná M, Hulková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, et al. [scielo.isciii.es]

Molecular, and cytogenetic insights into the pathogenesis, classification, differential diagnosis, and prognosis of renal epithelial neoplasms. Hum Pathol 2009; 40: 10-29. Thoenes W, Störkel S, Rumpelt HJ, y cols. [patologia.es]

Discovery of a novel mutation in the REN gene in patient with chronic progressive kidney disease of unknown etiology presenting with acute spontaneous carotid artery dissection. J Stroke Cerebrovasc Dis. 2019;28:104302. [ncbi.nlm.nih.gov]