» Articles » PMID: 35155874

Alport Syndrome With Kidney Cysts Is Still Alport Syndrome

Overview
Journal Kidney Int Rep
Publisher Elsevier
Specialty Nephrology
Date 2022 Feb 14
PMID 35155874
Authors
Affiliations
Soon will be listed here.
Citing Articles

A Novel Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.

Graziani L, Minotti C, Carriero M, Bengala M, Lai S, Terracciano A Genes (Basel). 2024; 15(5).

PMID: 38790225 PMC: 11121527. DOI: 10.3390/genes15050597.


Explaining Alport syndrome-lessons from the adult nephrology clinic.

Mabillard H, Ryan R, Tzoumas N, Gear S, Sayer J J Rare Dis (Berlin). 2024; 3(1):14.

PMID: 38745975 PMC: 11088994. DOI: 10.1007/s44162-024-00036-z.


Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases.

Chang Y, Hwang D, Chen T, Lin C, Tseng M, Tsai J Kidney Med. 2024; 6(5):100815.

PMID: 38680391 PMC: 11053243. DOI: 10.1016/j.xkme.2024.100815.


Genetic diagnosis of Alport syndrome in 16 Chinese families.

Xiao T, Zhang J, Liu L, Zhang B Mol Genet Genomic Med. 2024; 12(3):e2406.

PMID: 38433557 PMC: 10910213. DOI: 10.1002/mgg3.2406.


Monoallelic pathogenic variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.

Dordoni C, Zeni L, Toso D, Mazza C, Mescia F, Cortinovis R Clin Kidney J. 2024; 17(2):sfae026.

PMID: 38404363 PMC: 10894029. DOI: 10.1093/ckj/sfae026.


References
1.
Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D . Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med. 1981; 70(3):493-505. DOI: 10.1016/0002-9343(81)90571-4. View

2.
Gibson J, Fieldhouse R, Chan M, Sadeghi-Alavijeh O, Burnett L, Izzi V . Prevalence Estimates of Predicted Pathogenic Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. J Am Soc Nephrol. 2021; 32(9):2273-2290. PMC: 8729840. DOI: 10.1681/ASN.2020071065. View

3.
Gulati A, Sevillano A, Praga M, Gutierrez E, Alba I, Dahl N . Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD. Kidney Int Rep. 2020; 5(1):103-108. PMC: 6943786. DOI: 10.1016/j.ekir.2019.09.004. View

4.
Gast C, Pengelly R, Lyon M, Bunyan D, Seaby E, Graham N . Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2015; 31(6):961-70. DOI: 10.1093/ndt/gfv325. View

5.
Sevillano A, Gutierrez E, Morales E, Hernandez E, Molina M, Gonzalez E . Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment. Clin Kidney J. 2015; 7(3):251-6. PMC: 4377753. DOI: 10.1093/ckj/sfu033. View