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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
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 microa …
We now recommend the initiation of treatment at the time of diagnosis in males with X-linked Alport syndrome and in males 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.
They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms. ...We consider in detail …
They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exh …
Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach.
Bjørklund G, Pivin M, Hangan T, Yurkovskaya O, Pivina L. Bjørklund G, et al. Autoimmun Rev. 2022 Aug;21(8):103135. doi: 10.1016/j.autrev.2022.103135. Epub 2022 Jun 9. Autoimmun Rev. 2022. PMID: 35690244 Review.
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive hereditary pathology that develops with endocrine and non-endocrine manifestations in childhood. ...This paper analyzes scientific information characterizing clinical manifestat …
Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive hereditary pathology that develops wi …
Ciliopathy: Senior-Loken Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:175-178. doi: 10.1007/978-3-319-95046-4_34. Adv Exp Med Biol. 2018. PMID: 30578507 Review.
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. ...Patients experience nephronophthisis, characterized by cystic kidney disease (medullary cystic kidney disease), reduced concentrating ability, and chronic tubuloi …
Senior-Loken syndrome is a rare autosomal recessive disease with a prevalence of 1:1,000,000. ...Patients experience ne …
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
Familial hematuria: A review.
Plevová P, Gut J, Janda J. Plevová P, et al. Medicina (Kaunas). 2017;53(1):1-10. doi: 10.1016/j.medici.2017.01.002. Epub 2017 Jan 31. Medicina (Kaunas). 2017. PMID: 28236514 Free article. Review.
Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The features of Alport syndrome include hematuria, proteinuria and all males with X-linked disease and all individuals with rece
Less frequent but important cause with respect to morbidity is Alport syndrome caused by germline COL4A5 gene mutations. The f …
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
50 results