U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Alport syndrome autosomal recessive

MedGen UID:
292689
•Concept ID:
C1567744
•
Disease or Syndrome
Synonym: Alport Syndrome, Autosomal Recessive
SNOMED CT: Alport syndrome autosomal recessive (717767009)

Professional guidelines

PubMed

Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.
Kashtan CE, Gross O
Pediatr Nephrol 2021 Mar;36(3):711-719. Epub 2020 Nov 6 doi: 10.1007/s00467-020-04819-6. PMID: 33159213
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M
PLoS One 2016;11(9):e0161802. Epub 2016 Sep 14 doi: 10.1371/journal.pone.0161802. PMID: 27627812Free PMC Article

Recent clinical studies

Etiology

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.
Zhou L, Xi B, Xu Y, Han Y, Yang Y, Yang J, Wang Y, Qiu L, Zhang Y, Zhou J
J Nephrol 2023 Jun;36(5):1415-1423. Epub 2023 Apr 25 doi: 10.1007/s40620-023-01570-7. PMID: 37097554

Diagnosis

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.
Zhou L, Xi B, Xu Y, Han Y, Yang Y, Yang J, Wang Y, Qiu L, Zhang Y, Zhou J
J Nephrol 2023 Jun;36(5):1415-1423. Epub 2023 Apr 25 doi: 10.1007/s40620-023-01570-7. PMID: 37097554
Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.
Haas M
Arch Pathol Lab Med 2009 Feb;133(2):224-32. doi: 10.5858/133.2.224. PMID: 19195966

Prognosis

Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.
Haas M
Arch Pathol Lab Med 2009 Feb;133(2):224-32. doi: 10.5858/133.2.224. PMID: 19195966

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • NCBI Bookshelf
      Related information in NCBI Bookshelf
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...