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Currently filtering by tag: APOL1

APOL1: Why Is It Important?

I have been working at Arkana Laboratories (formerly Nephropath) for close to seven years as the Molecular Diagnostics Laboratory Supervisor. One of my first projects here was to isolate DNA from formalin-fixed, paraffin-embedded tissue and get an assay set up to determine variants in the APOL1 gene. At that time, these variants were recently discovered and there was great excitement in the scientific community as to their role in kidney disease, especially in African Americans, which is the population with the highest frequency of these gene variants in America. Our project involved the role of these variants in collapsing glomerulopathy...

Twitter Poll (April 17, 2019)

ANSWER: D Collapsing glomerulopathy has been associated with certain infectious disease including HIV, Hepatitis C, HTLV-1, parvovirus B19, cytomegalovirus, tuberculosis, Campylobacter enteritis, and Loa loa filariasis. References: Cossey LN, Larsen CP, Liapis H. Collapsing glomerulopathy: a 30-year perspective and single, large center experience. Clin Kidney J 2017; 10(4):443-449 Cohen AH, Nast CC. HIV-associated nephropathy. A unique combined glomerular, tubular, and interstitial lesion. Mod Pathol 1988; 1: 87–97 D’Agati V, Suh JI, Carbone L, et al. Pathology of HIV-associated nephropathy: a detailed morphologic and comparative study. Kidney Int 1989; 35: 1358–1370 Pakasa NM, Nseka NM, Nyimi LM. Secondary collapsing glomerulopathy associated...

Diagnose This! (January 22, 2018)

What is your diagnosis?     ​   ​ ​   ​   ​ ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​ ​   ​ ​   ​ ​   ​ ​     ​   ​   ​...

Collapsing Glomerulopathy

Collapsing glomerulopathy is characterized by glomerular tuft collapse with overlying epithelial hypertrophy and hyperplasia in Bowman’s space. This pattern of glomerular injury is most commonly seen in African Americans and has been shown to be strongly associated with the presence of APOL1 risk variants in a number of associated diseases including HIV infection, lupus nephritis, interferon therapy, PLA2R-positive membranous glomerulopathy, and idiopathic cases.

IgA and APOL1

The presence of two APOL1 risk alleles, which predominantly affects population of recent African ancestry, confers up to 29x increased risk for renal disease. The morphologic manifestation of APOL1-associated nephropathy is quite variable, and includes focal segmental glomerulosclerosis (FSGS), collapsing glomerulopathy and non-specific glomerular and tubulointerstitial arterionephrosclerosis-like chronic changes (see reference). In order to develop renal disease, it is believed that carriers of two APOL1 risk alleles required either additional genetic alterations that contribute to the disease, or additional environmental risk factors. Some of these known factors include HIV infection, sickle cell disease, systemic lupus erythematosus and membranous glomerulopathy, among...

Pushing Glass (May 2, 2017)

A 45 year-old African American man presented with pneumonia, colitis and acute kidney injury (serum creatinine- 6 mg/dL). What is the most likely diagnosis? A. Infection associated glomerulonephritis B. Ischemic glomerulopathy due to sepsis C. HIV-associated nephropathy D. Focal and segmental glomerulosclerosis E. Acute pyelonephritis Answer: C HIV-associated nephropathy (HIVAN) is a characteristic renal disease developing in the setting of HIV infection. It is manifested clinically by nephrotic-range proteinuria (full nephrotic syndrome is uncommon), acute renal failure and microscopic hematuria and morphologically by collapsing glomerulopathy. Some APOL1 polymorphisms, which are more prevalent in African American, predispose to HIVAN.  HIV-associated immune...