Tuesday, March 9, 2010

Hermansky-Pudlak Syndrome

This is one that Nate would have liked....I recently saw a case of renal disease in an albino Peurto Rican woman with severe pulmonary fibrosis. She holds the diagnosis of Hermansky-Pudlak Syndrome (HPS).
HPS is
an autosomal recessive disorder characterized by
  • Oculocutaneous albinism
  • A bleeding diasthesis (absense of dense bodies)
  • Sometimes pulmonary fibrosis
  • Sometimes granulomatous colitis.
The prevalence is 1 in 500,000 in non-Puerto Ricans and 1 in 1800 in Peurto Ricans. The HPS1 gene is most associated with HPS in Peurto Ricans and for the pulmonary fibrosis which is usually fatal in 10 years from symptom onset.

The renal failure, pulmonary fibrosis, and granulomatous colitis are associated with lysosomal accumulation of amorphous lipid-protein complexes called ceroid lipofuscin. This is seen on the limited number who have undergone renal biopsy. The ceroid deposits accumulate in renal tubular epithelial cells of the proximal tubules with sparing of the glomerular epithelial cells and the distal tubular epithelium. Pathogenesis is still speculative and treatment options other than supportive care are currently unavailable.

4 comments:

Anonymous said...

Interesting Post. Thanks

Anonymous said...

We had a case of this as well. She does not have pulmonary fibrosis but has extensive history of bowel resection from her colitis.

abraham said...

Thanks for the post but what is the clinical renal presentation ? TIN ? PCT dysfonction ( Faconi's syndrome )?

Anonymous said...

The patient presented from the lung transplant service for a renal evaluation. She does not have an interstitial nephritis or pct dysfunction. She has severe glomerulosclerosis secondary to microvasculopathy. The association of the ceroid deposits and the vasculopathy is not clear.