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Page 1
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocu …
Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. I …
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected ind …
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL …
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. Nozu K, et al. Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: 10.1007/s10157-018-1629-4. Epub 2018 Aug 20. Clin Exp Nephrol. 2019. PMID: 30128941 Free PMC article. Review.
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal …
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
The presence of affected carriers can misleadingly suggest autosomal dominant inheritance. Some disorders (such as RPGR-associated retinopathy) show diverse phenotypes from variants in the same gene and also highlight limitations of current genetic sequencing method …
The presence of affected carriers can misleadingly suggest autosomal dominant inheritance. Some disorders (such as RPGR-associ …
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. Kashtan CE, et al. Pediatr Nephrol. 2021 Mar;36(3):711-719. doi: 10.1007/s00467-020-04819-6. Epub 2020 Nov 6. Pediatr Nephrol. 2021. PMID: 33159213 Review.
We now recommend the initiation of treatment at the time of diagnosis in males with X-linked Alport syndrome and in males and females with autosomal recessive Alport syndrome. We further recommend starting treatment at the onset of microalbuminu …
We now recommend the initiation of treatment at the time of diagnosis in males with X-linked Alport syndrome and in males and …
Hereditary Renal Diseases.
Mehta L, Jim B. Mehta L, et al. Semin Nephrol. 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. Semin Nephrol. 2017. PMID: 28711074 Review.
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. ...In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport …
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. ...In …
Current and Future Therapeutical Options in Alport Syndrome.
Reiterová J, Tesař V. Reiterová J, et al. Int J Mol Sci. 2023 Mar 14;24(6):5522. doi: 10.3390/ijms24065522. Int J Mol Sci. 2023. PMID: 36982595 Free PMC article. Review.
Alport syndrome (AS) is a hereditary kidney disease caused by pathogenic variants in COL4A3 and COL4A4 genes with autosomal recessive or autosomal dominant transmission or in the COL4A5 gene with X-linked inheritance. ...Sodium-glucose co …
Alport syndrome (AS) is a hereditary kidney disease caused by pathogenic variants in COL4A3 and COL4A4 genes with au …
MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R. Furlano M, et al. Nefrologia (Engl Ed). 2019 Mar-Apr;39(2):133-140. doi: 10.1016/j.nefro.2018.08.008. Epub 2018 Nov 22. Nefrologia (Engl Ed). 2019. PMID: 30471777 Free article. Review. English, Spanish.
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues and esp …
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an …
Inherited renal diseases.
Leung JC. Leung JC. Curr Pediatr Rev. 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. Curr Pediatr Rev. 2014. PMID: 25088262 Review.
Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases include autosomal dominant and recessive polycystic kidney disease (ADPKD, ARPKD, respectively). ...Medullary sponge kidney is uncommon and fea …
Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases include autoso …
Autosomal Dominant Tubulointerstitial Kidney Disease.
Bleyer AJ, Kidd K, Živná M, Kmoch S. Bleyer AJ, et al. Adv Chronic Kidney Dis. 2017 Mar;24(2):86-93. doi: 10.1053/j.ackd.2016.11.012. Adv Chronic Kidney Dis. 2017. PMID: 28284384 Free PMC article. Review.
There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene encoding renin. ...There are 3 cardinal features of these disorders: (1) the conditions are inherited …
There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mut …
68 results