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Nephrotic Syndrome - ITGB4 Associated

MedGen UID:
887899
•Concept ID:
C4054381
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - ITGB4 Associated

Professional guidelines

PubMed

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038

Recent clinical studies

Etiology

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038

Diagnosis

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038

Prognosis

Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD, Watanabe A, Watanabe EH, Narcizo AM, Nunes K, Lerario AM, Ferreira FM, Cavalcante LB, Wongboonsin J, Malheiros DM, Jorge LB, Sampson MG, Noronha IL, Onuchic LF
Kidney Int 2024 Mar;105(3):593-607. Epub 2023 Dec 22 doi: 10.1016/j.kint.2023.11.028. PMID: 38143038

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    Practice guidelines

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