Cacchi Ricci disease associated with congenital hemihypertrophy
2002
OBJECTIVE: An uncommon case of medullary sponge kidney with congenital hemihypertrophy complicated by nephrocalcinosis and nephrolithiasis is reported here. METHODS/RESULTS: A 29 year old female patient with multiple episodes of renal colic is presented. Clinical features, radiological findings and differential diagnosis in a patient with Cacchi-Ricci disease are discussed. At least twenty-nine cases associated with congenital hemihypertrophy have been reported previously. CONCLUSIONS: A significant number of patients with medullary sponge kidney are asymptomatic. In many cases the diagnosis is made when a patient is evaluated by intravenous urography for some unrelated problem. However, medullary sponge kidney has been reported in association with rare congenital anomalies (Beckwith-Widemann syndrome and congenital hemihypertrophy) and these patients appear to be at risk of malignant neoplasms of the adrenal gland, kidney and liver, therefore they must be followed closely.
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