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Medullary Cystic Disease Differential Diagnoses

  • Author: Prasad Devarajan, MD, FAAP; Chief Editor: Craig B Langman, MD  more...
 
Updated: Nov 16, 2015
 
 
 
Contributor Information and Disclosures
Author

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.

Specialty Editor Board

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.

Chief Editor

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; Raptor Pharmaceuticals; Eli Lilly and Company; Dicerna<br/>Received grant/research funds from NIH for none; Received grant/research funds from Raptor Pharmaceuticals, Inc for none; Received grant/research funds from Alexion Pharmaceuticals, Inc. for none; Received consulting fee from DiCerna Pharmaceutical Inc. for none.

Additional Contributors

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.

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

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

  3. 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].

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

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

  6. 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].

  7. 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].

  8. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

  13. 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].

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

  15. 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].

  16. 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].

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Table. Molecular Genetic Features of the Nephronophthisis–Medullary Cystic Kidney Disease Complex
DiseaseInheritance ChromosomeGene, ProteinGenetic Defect
NPH1Autosomal recessive 2q13NPHP1, nephrocystin-1Homozygous deletion, heterozygous deletion
NPH2Autosomal recessive 9q31NPHP2/INV, inversinRecessive mutations
NPH3Autosomal recessive 3q22NPHP3, nephrocystin-3Recessive mutations
NPH4Autosomal recessive 1p36NPHP4, nephroretininPoint mutations
NPH5Autosomal recessive 3q21NPHP5, nephrocystin-5Truncations
NPH6Autosomal recessive 12q21NPHP6, nephrocystin-6Truncations
NPH7Autosomal recessive 16pNPHP7, nephrocystin-7Unknown
NPH8Autosomal recessive 16pNPHP8, nephrocystin-8Truncations, missense
NPH9Autosomal recessive 17q11NPHP9, nephrocystin-9Missense
NPH11Autosomal recessive 8q22.1NPHP11, nephrocystin-11Missense
NPH1LAutosomal recessive 22q13Nephrocystin-1LDeletion
MCKD1Autosomal dominant 1q21MUC1,



mucin1



Missense
MCKD2Autosomal dominant 16p12*UMOD, UromodulinMissense
*Co-localizes with familial juvenile hyperuricemic nephropathy
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