MEDULLARY CYSTIC KIDNEY
 
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    MEDULLARY CYSTIC KIDNEY

     

    DEFINITION:

    A familial nephrosis characterized by tubular proteinuria and slowly progressive renal failure.

    EPIDEMIOLOGY:

    • incidence: 2/100,000
    • age of onset:
      • in 2nd decade
    • risk factors:
      • familial - autosomal recessive
        • chrom.#: ?
        • gene: ?
      • M = F

    PATHOGENESIS:

    1. Background

    • disorder results in a tubulointerstitial dysfunction
    • unknown etiology but thought to involve altered tubule structure and function:
      • abnormal embryonic development
      • abnormality in basement membrane
      • nephrotoxic substances

    CLINICAL FEATURES:

    1. Renal Manifestations

    1. Proteinuria

    • can progress to the nephrotic level

    2. Complications

    • Nephrotic Syndrome (edema, hypoalbuminemia, hyperlipidemia)
    • Chronic Renal Failure (CRF)
      • anemia, failure to thrive, bone disease, short stature
      • end stage renal failure (ESRF)
    • Renal Tubular Acidosis (RTA)
      • salt wasting/craving, polyuria, polydipsia, hypertension (late)

    2. Ocular Manifestations

    1. Retinitis Pigmentosa

    • pigmentary degeneration of the retina

    INVESTIGATIONS:

    1. Urinalysis

    • tubular proteinuria (light)
    • hyposthenuria

    2. Serum

    • progressive uremia

    3. Renal Biopsy

    • LM - distal tubule and collecting duct cysts
      • liver - unaffected

    4. IVP

    • medullary > cortical cysts (multiple, tiny)

    MANAGEMENT:

    1. Medical

    1. Nephrotic Syndrome

    • fluid restriction, salt-free diet, diuretics, albumin transfusions, prednisone, alkylating agents
    • see file on "Idiopathic Nephrotic Syndrome"

    2. Chronic Renal Failure

    • dialysis, transplant

    3. Renal Tubular Acidosis

    • oral phosphate, alkalinizing supplements, and vitamin D supplements

    2. Prognosis

    • renal failure in 2nd or 3rd decades


     

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