Medullary Cystic Disease Treatment & Management

Updated: Mar 16, 2020
  • Author: Prasad Devarajan, MD, FAAP; Chief Editor: Craig B Langman, MD  more...
  • Print
Treatment

Medical and Surgical Care

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

Transfer to a pediatric dialysis unit is required when the child with NPH-MCKD develops ESRD. Access for hemodialysis or peritoneal dialysis should be secured before ESRD develops.

Kidney transplantation is the treatment of choice for patients who have NPH-MCKD and ESRD. ESRD does not recur in the transplanted kidney. Living, related donors should be thoroughly screened for NPH-MCKD prior to the transplantation procedures.

Next:

Consultations

All children with polyuria, polydipsia, or a failure to thrive must be evaluated by a pediatric nephrologist. Children found to have NPH-MCKD 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 NPH-MCKD 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.

Previous
Next:

Diet and Activity

Diet

In children with NPH, 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.

In general, appropriate nutritional and medical education should be made available to the patient and family as ESRD develops.

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.

Previous