Schistosoma mansoni infection as a trigger to collapsing glomerulopathy in a patient with high-risk APOL1 genotype

Autor: Luiz F. Onuchic, Lectícia Barbosa Jorge, Cristiane B. Dias, Luis Yu, Elieser H. Watanabe, Rafaela B. Pinheiro, Viktoria Woronik, Lívia Barreira Cavalcante, Ramaiane A. Bridi, Denise Maria Avancini Costa Malheiros, Andreia Watanabe, Leonardo de Abreu Testagrossa, Janaina Ramalho, Precil Diego Miranda de Menezes Neves
Rok vydání: 2020
Předmět:
Male
0301 basic medicine
Anti-nuclear antibody
Physiology
Biopsy
RC955-962
Kidney Glomerulus
Pathogenesis
Pathology and Laboratory Medicine
Biochemistry
Gastroenterology
Geographical locations
Medical Conditions
Glomerulonephritis
0302 clinical medicine
Arctic medicine. Tropical medicine
Immune Physiology
Chronic Kidney Disease
Membranoproliferative glomerulonephritis
Medicine and Health Sciences
Schistosomiasis
Immune System Proteins
Proteinuria
Schistosoma mansoni
Apolipoprotein L1
Infectious Diseases
Nephrology
Helminth Infections
Public aspects of medicine
RA1-1270
Anatomy
medicine.symptom
Brazil
Neglected Tropical Diseases
Adult
medicine.medical_specialty
Immunology
030231 tropical medicine
Surgical and Invasive Medical Procedures
Antibodies
03 medical and health sciences
Glomerulopathy
Internal medicine
Renal Diseases
Parasitic Diseases
medicine
Animals
Humans
Rheumatoid factor
Anti-neutrophil cytoplasmic antibody
Symposium
business.industry
Public Health
Environmental and Occupational Health
Biology and Life Sciences
Proteins
Kidneys
Renal System
South America
Tropical Diseases
medicine.disease
Schistosomiasis mansoni
030104 developmental biology
Kidney Failure
Chronic
People and places
business
Kidney disease
Zdroj: PLoS Neglected Tropical Diseases
PLoS Neglected Tropical Diseases, Vol 14, Iss 10, p e0008582 (2020)
ISSN: 1935-2735
Popis: Background Schistosoma mansoni schistosomiasis (SM) remains a public health problem in Brazil. Renal involvement is classically manifested as a glomerulopathy, most often membranoproliferative glomerulonephritis or focal and segmental glomerulosclerosis. We report a case of collapsing glomerulopathy (CG) associated with SM and high-risk APOL1 genotype (HRG). Case report A 35-year-old male was admitted for hypertension and an eight-month history of lower-limb edema, foamy urine, and increased abdominal girth. He had a recent diagnosis of hepatosplenic SM, treated with praziquantel, without clinical improvement. Laboratory tests revealed serum creatinine 1.89mg/dL, blood urea nitrogen (BUN) 24mg/dL, albumin 1.9g/dL, cholesterol 531mg/dL, low-density lipoprotein 426mg/dL, platelets 115000/mm3, normal C3/C4, antinuclear antibody (ANA), rheumatoid factor (RF), and antineutrophil cytoplasmic antibodies (ANCA), negative serologies for hepatitis C virus (HCV) and human immunodeficiency virus (HIV), HBsAg negative and AntiHBc IgG positive, no hematuria or leukocyturia, 24 hour proteinuria 6.56g and negative serum and urinary immunofixation. Kidney biopsy established the diagnosis of CG. A treatment with prednisone was started without therapeutic response, progressing to end-stage kidney disease 19 months later. Molecular genetics investigation revealed an HRG. Conclusions This is the first report of CG associated with SM in the setting of an HRG. This case highlights the two-hit model as a mechanism for CG pathogenesis, where the high-risk APOL1 genotype exerts a susceptibility role and SM infection serves as a trigger to CG.
Author summary Schistosomiasis mansoni is still a public health problem in Brazil and renal involvement is described. In such cases, a glomerulopathy is the typical manifestation, most often membranoproliferative glomerulonephritis. In the current article, we report a patient with a recent diagnosis of hepatosplenic SM who was admitted for nephrotic syndrome associated with reduced renal function and hypertension. Kidney biopsy established the diagnosis of collapsing glomerulopathy (CG) and molecular genetics investigation identified a high-risk APOL1 genotype (HRG). Of note, HRG has been associated with increased risk to develop CG, and a two-hit model has been proposed for the genesis of this glomerulopathy. According to this model, a HRG represents the increased-susceptibility component, while an infection or other environmental factors could act as triggers for the development of CG. Based on those data and model, our case raises SM infection as a new trigger for this severe form of glomerulopathy. This is the first description of a case of CG associated with SM in a patient with an HRG. This case corroborates the interactive role between genetic and environmental factors in the pathogenesis of CG but also identifies SM infection as an additional trigger for its development.
Databáze: OpenAIRE
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