Pediatric Medullary Sponge Kidney Clinical Presentation

Updated: Aug 28, 2021
  • Author: Howard Trachtman, MD; Chief Editor: Craig B Langman, MD  more...
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Presentation

History and Physical Examination

History

Patients with medullary sponge kidney (MSK) are usually asymptomatic.

Patients may develop microhematuria or signs and symptoms of gross hematuria, renal stone development, or urinary tract infection (UTI).

Physical examination

Although physical examination findings are usually normal, as many as 25% of patients have hemihypertrophy, and 10% of patients with hemihypertrophy may have medullary sponge kidney, although no explanation for this association is noted. Children with medullary sponge kidney and hemihypertrophy may have an incomplete form of Beckwith-Wiedemann syndrome (BWS). Moreover, because of the high risk of malignancies in patients with BWS, these patients should be periodically screened for malignancies, including abdominal tumors.

Urinalysis findings may show hematuria, low-grade proteinuria, and mild acidification and concentrating defects.