Sickle Cell Disease



Sickle Cell Disease


Anthony Chang, MD










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

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Sickle Cell Disease
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