eMedicine Specialties > Pediatrics: General Medicine > Nephrology

Medullary Cystic Disease: Treatment & Medication

Author: Prasad Devarajan, MD, Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of Clinical Nephrology Laboratories, Chief Executive Officer of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine
Contributor Information and Disclosures

Updated: Dec 15, 2008

Treatment

Medical Care

  • 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

  • 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.

Consultations

  • 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.

Diet

  • 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.

Activity

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

Medication

Pharmacotherapy in patients with nephronophthisis (NPH)–medullary cystic kidney disease (MCKD) is symptomatic and directed at preventing and treating complications of progressive renal insufficiency.

Erythropoietin

This is a glycoprotein normally produced in the kidneys that is responsible for the stimulation of red blood cell production. Anemia occurs because of deficient erythropoietin production during renal failure.


Epoetin alfa (Epogen, Procrit)

Indicated for the treatment of anemia associated with chronic renal failure. Stimulates division and differentiation of committed erythroid progenitor cells; induces release of reticulocytes from bone marrow into bloodstream.

Adult

50-100 U/kg 3 times/wk initially; reduce dose by 25 U/kg when hematocrit approaches 36% or increases >4 points in any 2-wk period; increase dose if hematocrit does not increase by 5-6 points after 8 wk of therapy or if hematocrit is below suggested target range

Pediatric

Administer as in adults

May increase heparin requirements

Documented hypersensitivity; uncontrolled hypertension

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in porphyria, hypertension, history of seizures; decrease dose if hematocrit increases by >4 U in any 2-wk period

More on Medullary Cystic Disease

Overview: Medullary Cystic Disease
Differential Diagnoses & Workup: Medullary Cystic Disease
Treatment & Medication: Medullary Cystic Disease
Follow-up: Medullary Cystic Disease
References
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References

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Further Reading

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Keywords

medullary cystic disease, nephronophthisis, NPH, juvenile nephronophthisis, NPH1, infantile nephronophthisis, NPH2, adolescent nephronophthisis, NPH3, medullary cystic kidney disease, MCKD, MCKD1, MCKD2, juvenile nephronophthisis–medullary cystic kidney disease complex, juvenile nephronophthisis–medullary cystic kidney disease, nephronophthisis–medullary cystic kidney disease complex, nephronophthisis–medullary cystic kidney disease, nephronophthisis–medullary cystic disease, NPH-MCKD, ciliopathies, end-stage renal disease, ESRD, renal insufficiency, polyuria, polydipsia, Cogan syndrome, Senior-Loken syndrome, Mainzer-Saldino syndrome, Joubert syndrome, Sensenbrenner syndrome, hyperuricemia, gout, Jeune syndrome, asphyxiating thoracic dysplasia, obesity, Ellis-van Creveld syndrome, PHYNS syndrome, Laurence-Moon-Bardet-Biedl syndrome, renal failure

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Contributor Information and Disclosures

Author

Prasad Devarajan, MD, Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of Clinical Nephrology Laboratories, Chief Executive Officer of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine
Prasad Devarajan, MD is a member of the following medical societies: American Heart Association, American Society of Nephrology, American Society of Pediatric Nephrology, National Kidney Foundation, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Deogracias Pena, MD, Medical Director of Dialysis, Department of Pediatrics, Cook Children's Medical Center; Clinical Associate Professor, Texas Tech University School of Medicine
Deogracias Pena, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, and American Society of Pediatric Nephrology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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 Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Eastern Society for Pediatric Research, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Renal Physicians Association, Sigma Xi, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Howard Trachtman, MD, Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine
Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD, The Isaac A Abt, MD, Professor of Kidney Diseases, Feinberg School of Medicine, Northwestern University; Division Head of Kidney Diseases, Children's Memorial Hospital, Chicago
Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology
Disclosure: Amgen Grant/research funds None; Abbott Honoraria Speaking and teaching; Altus Pharmaceuticals Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None

 
 
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