Medullary Cystic Disease Differential Diagnoses

1. Luo F, Tao YH. Nephronophthisis: A review of genotype-phenotype correlation. Nephrology (Carlton). 2018 Oct. 23 (10):904-11. [Medline].

2. Kim S, Dynlacht BD. Assembling a primary cilium. Curr Opin Cell Biol. 2013 Aug. 25(4):506-11. [Medline]. [Full Text].

3. Caliskan Y, Gharavi AG. Working out nephronophthisis genetics one family at a time. J Am Soc Nephrol. 2013 May. 24(6):865-8. [Medline].

4. Arts HH, Knoers NV. Current insights into renal ciliopathies: what can genetics teach us?. Pediatr Nephrol. 2013 Jun. 28(6):863-74. [Medline]. [Full Text].

5. Wolf MT, Hildebrandt F. Nephronophthisis. Pediatr Nephrol. 2011 Feb. 26(2):181-94. [Medline].

6. Benzing T, Schermer B. Clinical spectrum and pathogenesis of nephronophthisis. Curr Opin Nephrol Hypertens. 2012 May. 21(3):272-8. [Medline].

7. Gascue C, Katsanis N, Badano JL. Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatr Nephrol. 2011 Aug. 26(8):1181-95. [Medline]. [Full Text].

8. Srivastava S, Molinari E, Raman S, Sayer JA. Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders. Front Pediatr. 2017. 5:287. [Medline].

9. Kirby A, Gnirke A, Jaffe DB, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar. 45(3):299-303. [Medline].

10. Kudo E, Kamatani N, Tezuka O, et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int. 2004 May. 65(5):1589-97. [Medline].

11. Dahan K, Devuyst O, Smaers M, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol. 2003 Nov. 14(11):2883-93. [Medline].

12. Tinschert S, Ruf N, Bernascone I, et al. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. Nephrol Dial Transplant. 2004 Dec. 19(12):3150-4. [Medline].

13. Zivna M, Hulkova H, Matignon M, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009 Aug. 85(2):204-13. [Medline].

14. Halbritter J, Porath JD, Diaz KA, et al. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet. 2013 Aug. 132(8):865-84. [Medline].

15. Bollee G, Dahan K, Flamant M, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol. 2011 Oct. 6(10):2429-38. [Medline].

16. Iorember FM, Vehaskari VM. Uromodulin: old friend with new roles in health and disease. Pediatr Nephrol. 2013 Jul 24. [Medline].

17. Bleyer AJ, Kmoch S, Antignac C, et al. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014 Mar. 9 (3):527-35. [Medline].

18. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 2009 Jan. 20 (1):23-35. [Medline].

19. Stokman MF, van der Zwaag B, van de Kar NCAJ, et al. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatr Nephrol. 2018 Oct. 33 (10):1701-12. [Medline].

20. Suzuki T, Iyoda M, Yamaguchi Y, Shibata T. A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. Pathol Int. 2015 Jul. 65 (7):379-82. [Medline].

Prasad Devarajan, MD, FAAP Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of the Nephrology Fellowship Program, Medical Director of the Kidney Stone Center, Co-Director of the Institutional Office of Pediatric Clinical Fellowships, Director of Clinical Nephrology Laboratory, CEO of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine

Prasad Devarajan, MD, FAAP is a member of the following medical societies: American Heart Association, American Society of Nephrology, American Society of Pediatric Nephrology, National Kidney Foundation, Society for Pediatric Research

Disclosure: Received none from Coinventor on patents submitted for the use of NGAL as a biomarker of kidney injury for none.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Frederick J Kaskel, MD, PhD Director of the Division and Training Program in Pediatric Nephrology, Vice Chair, Department of Pediatrics, Montefiore Medical Center and Albert Einstein School of Medicine

Frederick J Kaskel, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, Eastern Society for Pediatric Research, Renal Physicians Association, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research

Disclosure: Nothing to disclose.

Craig B Langman, MD The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, The Ann and Robert H Lurie Children's Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, International Society of Nephrology

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Horizon Pharmaceuticals); ; Dicerna, Jannsen Pharmaceuticals<br/>Incyte Pharmaceuticals; Eli Lilly .

Deogracias Pena, MD Medical Director of Dialysis, Medical Director of Pediatric Nephrology and Transplantation, Cook Children's Medical Center; Clinical Associate Professor, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Medical Director of Pediatric Nephrology, Florida Hospital for Children

Deogracias Pena, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article