Medullary cystic disease and familial juvenile nephronophthisis.
Strauss MB, Sommers SC.
N Engl J Med. 1967 Oct 19;277(16):863-4. doi: 10.1056/NEJM196710192771606.
Autosomal Recessive Polycystic Kidney Disease.
Subramanian S, Leslie SW, Ahmad T.
2024 Mar 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Renal medullary cystic disease or familial juvenile nephronophthisis: a renal tubular disease. Biochemical findings in two siblings.
Giselson N, Heinegard D, Holmberg CG, Lindberg LG, Lindstedt E, Lindstedt G, Schersten B.
Am J Med. 1970 Feb;48(2):174-84. doi: 10.1016/0002-9343(70)90113-0.
Juvenile nephronophthisis and renal medullary cystic disease.
Gardner KD Jr.
Perspect Nephrol Hypertens. 1976;4:173-85.
Clinical spectrum and pathogenesis of nephronophthisis.
Benzing T, Schermer B.
Curr Opin Nephrol Hypertens. 2012 May;21(3):272-8. doi: 10.1097/MNH.0b013e3283520f17.
Glomerulocystic kidney disease--nosological considerations.
Bernstein J.
Pediatr Nephrol. 1993 Aug;7(4):464-70. doi: 10.1007/BF00857576.
Clinical, pathological and genetic aspects of a form of cystic disease of the renal medulla: familial juvenile nephronophthisis (FJN).
van Collenburg JJ, Thompson MW, Huber J.
Clin Nephrol. 1978 Feb;9(2):55-62.
Ttc21b deficiency attenuates autosomal dominant polycystic kidney disease in a kidney tubular- and maturation-dependent manner.
Wang W, Silva LM, Wang HH, Kavanaugh MA, Pottorf TS, Allard BA, Jacobs DT, Dong R, Cornelius JT, Chaturvedi A, Swenson-Fields KI, Fields TA, Pritchard MT, Sharma M, Slawson C, Wallace DP, Calvet JP, Tran PV.
Kidney Int. 2022 Sep;102(3):577-591. doi: 10.1016/j.kint.2022.04.034. Epub 2022 May 27.
Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review.
Liang D, Liang S, Zhang M, Gao E, Zhang Z, Jin Y, Xu F, Zeng C.
Nephron. 2019;143(4):282-287. doi: 10.1159/000502146. Epub 2019 Aug 16.
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.
Renigunta A, Renigunta V, Saritas T, Decher N, Mutig K, Waldegger S.
J Biol Chem. 2011 Jan 21;286(3):2224-35. doi: 10.1074/jbc.M110.149880. Epub 2010 Nov 16.
