A comparison of the ocular features in Pierson and Alport syndrome: a case report and literature review.

Male Humans Adult Nephritis, Hereditary / complications Glomerulosclerosis, Focal Segmental Nephrotic Syndrome / genetics Mutation Collagen Type IV / genetics
Alport syndrome COL4A5 LAMB2 Pierson syndrome basement membrane collagen IV foveal reflex retinal thinning

Journal

Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057

Informations de publication

Date de publication:
10 2023
Historique:
medline: 22 9 2023
pubmed: 4 8 2023
entrez: 3 8 2023
Statut: ppublish

Résumé

Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in A 28-year-old man who developed kidney failure 10 years previously and subsequently had an atrial septal defect repair was suspected of having genetic kidney disease on the basis of his likely diagnosis of Focal and Segmental Glomerulosclerosis (FSGS), his young age at presentation, and his cardiac anomaly. He then underwent Whole Exome Sequencing and a formal ophthalmological examination. The patient was found to have a homozygous Likely Pathogenic missense variant (p.(Arg1719Cys)) in Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder"

Sections du résumé

BACKGROUND
Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in
METHODS
A 28-year-old man who developed kidney failure 10 years previously and subsequently had an atrial septal defect repair was suspected of having genetic kidney disease on the basis of his likely diagnosis of Focal and Segmental Glomerulosclerosis (FSGS), his young age at presentation, and his cardiac anomaly. He then underwent Whole Exome Sequencing and a formal ophthalmological examination.
RESULTS
The patient was found to have a homozygous Likely Pathogenic missense variant (p.(Arg1719Cys)) in
CONCLUSION
Our patient had a later onset form of Pierson syndrome or "FSGS type 5, with or without ocular abnormalities," consistent with his "milder"

Identifiants

DOI: 10.1080/13816810.2023.2240881 PMID: 37537573
pubmed: 37537573
doi: 10.1080/13816810.2023.2240881
doi:

Substances chimiques

Collagen Type IV 0

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

417-422

Auteurs

Kieran Gooley (K)

Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.

Peter Williams (P)

Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.

Heather Mack (H)

Department of Ophthalmology, The University of Melbourne, East Melbourne, Australia.

Victor Zhu (V)

Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.

David Langsford (D)

Renal Unit, Northern Health, Epping, Australia.

Tim Pianta (T)

Renal Unit, Northern Health, Epping, Australia.

David Barit (D)

Renal Unit, Northern Health, Epping, Australia.

Khalid Mahmood (K)

Melbourne Bioinformatics, The University of Melbourne, Parkville, Australia.

Judy Savige (J)

Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Australia.
ORCID: 0000-0002-6813-0288

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A comparison of the ocular features in Pierson...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A comparison of the ocular features in Pierson...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies du tissu conjonctif › Maladies du collagène › Néphropathie familiale avec surdité › A comparison of the ocular features in Pierson...
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrite › Glomérulonéphrite › Glomérulonéphrite segmentaire et focale › A comparison of the ocular features in Pierson...
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrose › Syndrome néphrotique › A comparison of the ocular features in Pierson...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A comparison of the ocular features in Pierson...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Collagène › Collagènes non fibrillaires › Collagène de type IV › A comparison of the ocular features in Pierson...