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Medullary Cystic Disease Treatment & Management

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

Medical Care

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  • In all variants of nephronophthisis (NPH)–medullary cystic kidney disease (MCKD), end-stage renal disease (ESRD) insidiously ensues within characteristic age ranges, and no specific therapy is available. Management is symptomatic and directed at preventing and treating complications of progressive renal insufficiency, such as the correction of electrolyte, acid-base, and water-balance disturbances.
  • Anemia may be treated with erythropoietin.
  • Growth retardation is responsive to recombinant growth hormone.
  • All patients eventually require renal replacement therapy including peritoneal dialysis or hemodialysis or preemptive kidney transplantation.

Surgical Care

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  • Access for hemodialysis or peritoneal dialysis should be secured before ESRD develops.
  • Kidney transplantation is the treatment of choice for patients who have nephronophthisis–medullary cystic kidney disease and ESRD.
    • ESRD does not recur in the transplanted kidney.
    • Living, related donors should be thoroughly screened for the disease prior to the transplantation procedures.


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  • All children with polyuria, polydipsia, or a failure to thrive must be evaluated by a pediatric nephrologist. Children found to have nephronophthisis–medullary cystic kidney disease should be referred for an ophthalmologic examination and closely followed up by the nephrologist.
  • Offer genetic counseling to the family.
    • A carefully constructed pedigree may help in distinguishing between the recessive and dominant forms of the disease.
    • Because of the genetic locus heterogeneity among diseases in the nephronophthisis–medullary cystic kidney disease complex, prenatal diagnosis can be performed only by means of direct genetic testing. This testing requires a setting in which a specific deletion or mutation of the NPH1 gene has already been characterized in an affected sibling. The urinary concentrating ability of asymptomatic siblings should be tested at yearly intervals.


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  • In children with nephronophthisis, their nutrition should be appropriate for their age.
  • Adequate hydration is important to replace urinary water losses and sodium loss in patients with salt-wasting.
  • As renal insufficiency progresses, foods high in phosphorus and potassium should be limited.


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  • Activities may be pursued as tolerated.
  • Strenuous exercise and prolonged heat exposure should be avoided because children with NPH-MCKD are prone to dehydration.
Contributor Information and Disclosures

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.

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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,


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