A case of atypical congenital nephrotic syndrome

Pediatr Nephrol. 2004 Mar;19(3):349-52. doi: 10.1007/s00467-003-1352-5. Epub 2004 Jan 9.

Abstract

We present a female newborn with the nephrotic syndrome of intrauterine onset and a unique set of extrarenal abnormalities, as well as atypical renal lesions. The extrarenal anomalies comprised a soft tissue hemangioma in the frontotemporal region, unilateral microphthalmia (with persistent hyperplastic corpus vitreous and detachment of the retina), and glaucoma in the other eye. Immature glomeruli and/or glomeruli with large cellular crescents were found in renal biopsy specimens in the 3rd week of life. On autopsy, 7 weeks later, diffuse mesangial sclerosis (DMS) was the predominant type of glomerular lesion. In addition, dilations of tubules, forming microcysts, as well as clusters of infiltrating cells in the interstitium, were found both in renal biopsy and autopsy specimens. Although the symptoms observed in our patient did not match any reported in association with the known forms of the congenital nephrotic syndrome (CNS), the most probable diagnosis seemed to be CNS due to DMS of intrauterine onset, with superimposed drug-related tubulointerstitial nephritis.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Eye Abnormalities / complications
  • Fatal Outcome
  • Female
  • Glomerular Mesangium / abnormalities*
  • Glomerular Mesangium / pathology
  • Hemangioma / complications
  • Humans
  • Infant, Newborn
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / congenital
  • Nephrotic Syndrome / pathology*