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Nephronophthisis Complex - Medullary Cystic Disease


Symptoms & Signs

What are the signs and symptoms of the disease?

Symptoms of medullary cystic disease often begin during childhood. However, in some forms of MCD, symptoms don't begin until adulthood. Common signs and symptoms of MCD include:

  • frequent urination and urge to urinate
  • excessive thirst
  • failure to thrive, or poor growth in infants
  • dehydration
  • nausea and vomiting
  • poor appetite and weight loss
  • fatigue
  • urinating large amounts of fluid
  • need to urinate at night
  • headaches
  • visual impairments, which only occur in some forms of MCD
  • In severe untreated cases, symptoms of kidney failure may occur. Kidney failure can result in:

  • a decreased level of alertness, trouble concentrating, or confusion
  • trouble breathing
  • coma

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