Glomerular basement membrane lipidosis in Alagille syndrome

Jessica Davis, Ryan Griffiths, Kay Larkin, David Rozansky, Megan Troxell

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Alagille syndrome is characterized by a paucity of interlobular bile ducts with chronic cholestasis, cardiac, skeletal, and eye abnormalities and is associated predominantly with JAG1 mutations. Various renal abnormalities have been sporadically described. The classic renal histopathology described in Alagille syndrome is mesangiolipidosis, with lipid deposits predominately confined to the mesangium and minimal deposition within the glomerular basement membrane (GBM). We report a 5-year-old girl with Alagille syndrome who presented with persistent subnephrotic proteinuria and renal tubular acidosis. A renal biopsy showed GBM irregularities (mimicking membranous glomerulonephritis), mesangial sclerosis, and focal segmental glomerulosclerosis (FSGS) on light microscopy. Electron microscopy revealed few lipid inclusions within the mesangium but extensive inclusions along the GBM. These findings are mostly consistent with those reported previously in Alagille syndrome. However, the histologic distribution of lipid vacuoles is seemingly reversed in this patient and is uniquely accompanied by FSGS, emphasizing the spectrum of renal histopathology seen in Alagille syndrome. The proteinuria observed in this patient is likely attributed to significant GBM lipid deposition, which over time may contribute to the development of FSGS.

Original languageEnglish (US)
Pages (from-to)1181-1184
Number of pages4
JournalPediatric Nephrology
Issue number6
StatePublished - Jun 2010


  • Alagille syndrome
  • Hepatorenal
  • JAG1
  • Mesangiolipidosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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