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Proteus syndrome with renal involvement

T Sato1, M Ota, S Miyazaki

  • 1Department of Pediatrics, Saga Medical School, Japan.

Acta Paediatrica Japonica : Overseas Edition
|February 1, 1995
PubMed
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This case study details an 11-year-old girl with Proteus syndrome affecting her kidneys. It highlights previously unreported deteriorating renal function in this rare genetic disorder.

Area of Science:

  • Medical genetics
  • Nephrology
  • Pediatrics

Background:

  • Proteus syndrome is a rare congenital disorder characterized by segmental overgrowth and mosaicism.
  • Visceral organ involvement, including kidneys, has been documented in Proteus syndrome.
  • The natural history of renal function in pediatric Proteus syndrome remains incompletely understood.

Observation:

  • An 11-year-old female presented with clinical features of Proteus syndrome, including hemihypertrophy, scoliosis, and limb overgrowth.
  • Radiological assessment revealed significant morphological abnormalities in both kidneys: right renal overgrowth with mild functional impairment and left renal hypoplasia with severe dysfunction.
  • Associated features included macrodactyly, lipoma, and pigmented nevi.

Findings:

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  • This case demonstrates Proteus syndrome with bilateral renal involvement, presenting with asymmetric kidney growth and function.
  • The patient exhibited progressive renal dysfunction, particularly in the hypoplastic left kidney.
  • This represents the first reported instance of deteriorating renal function as a complication of Proteus syndrome.

    • Implications:

    • Early and serial renal function monitoring is crucial for patients with Proteus syndrome.
    • Understanding the spectrum of renal manifestations is vital for comprehensive patient management.
    • Further research is needed to elucidate the mechanisms underlying renal pathology in Proteus syndrome.