Sickle Cell Disease

Sickle Cell Disease
Anthony Chang, MD
Key Facts
Terminology
  • Sickle cell nephropathy
Etiology/Pathogenesis
  • β-globin gene mutation
    • Chromosome 11p15.5
Clinical Issues
  • Presentation
    • Chronic kidney disease
    • Proteinuria
  • Drugs
    • Angiotensin-converting enzyme inhibitors
Macroscopic Features
  • Papillary necrosis
  • Vascular congestion of vasa recta in renal medulla
Microscopic Pathology
  • Glomerular hypertrophy
  • Glomerular sclerosis
    • Global
    • Segmental
  • Duplication of glomerular basement membranes
  • Hemosiderosis
Ancillary Tests
  • Electron microscopy
    • Cytoplasmic rod-like inclusions of polymerized hemoglobin in red blood cells
Top Differential Diagnoses
  • Focal segmental glomerulosclerosis
  • Chronic thrombotic microangiopathy
  • Collapsing glomerulopathy
Gross photograph shows marked congestion of the vasa recta image in the renal pyramid with prominent scarring of the renal papilla image, as shown by the deep horizontal divot. (Courtesy C. Abrahams, MD.)
Periodic acid-Schiff shows segmental sclerosis with accumulation of matrix image and foam cells image and focal prominence of adjacent visceral epithelial cells (or podocytes) image.
TERMINOLOGY
Synonyms
  • Sickle cell nephropathy
Definitions
  • Renal injury due to sickle cell disease
ETIOLOGY/PATHOGENESIS
β-globin Gene Mutation
  • Chromosome 11p15.5
  • Single nucleotide change leads to a change in amino acid sequence from glutamic acid to valine
  • Homozygous mutations
    • Combinations with various thalassemias may cause less severe renal disease
CLINICAL ISSUES
Epidemiology
  • Incidence
    • 1 in 500 African American births
  • Age
    • 3rd to 5th decade
  • Gender
    • No gender predilection
  • Ethnicity
    • African American predilection
Site
  • Kidney
    • Chronic kidney disease in 4-17%
Presentation
  • Proteinuria (25%)
  • Nephrotic syndrome (5%)
  • Hematuria
    • Often unilateral with left > right kidney involvement
  • Hyposthenuria
Laboratory Tests
  • Hemoglobin electrophoresis
Treatment
  • Surgical approaches
    • Renal transplantation
  • Drugs
    • Hydroxyurea
    • Angiotensin-converting enzyme inhibitors
    • Nonsteroidal anti-inflammatory agents
      • Should be avoided for pain control
      • May increase risk for papillary necrosis
  • Hematopoietic cell transplantation
    • Rare option, possibly curative
Prognosis
  • Average life expectancy: 48 years
  • Increased risk of medullary renal carcinoma
    • More common with sickle cell trait
MACROSCOPIC FEATURES
General Features
  • Papillary necrosis
    • 15-36% incidence
  • Vascular congestion of vasa recta in renal medulla
    • Hypoxic milieu enables sickling of red blood cells
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Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Sickle Cell Disease

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