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Page 1
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.
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Hadjipanagi D, Papagregoriou G, Koutsofti C, Polydorou C, Alivanis P, Andrikos A, Christodoulidou S, Dardamanis M, Diamantopoulos AA, Fountoglou A, Frangou E, Georgaki E, Giannikouris I, Gkinis V, Goudas PC, Kalaitzidis RG, Kaperonis N, Koutroumpas G, Makrydimas G, Myserlis G, Mitsioni A, Paliouras C, Papachristou F, Papadopoulou D, Papagalanis N, Papagianni A, Perysinaki G, Siomou E, Sombolos K, Tzanakis I, Vergoulas GV, Printza N, Deltas C. Hadjipanagi D, et al. Genes (Basel). 2022 Nov 24;13(12):2203. doi: 10.3390/genes13122203. Genes (Basel). 2022. PMID: 36553470 Free PMC article.
Although previous studies indicate a prevalence of AS of about 1/50,000, a recent publication reported a predicted rate of pathogenic COL4A5 variants of 1/2320. We herewith present 98 patients (40 M/58 F) from 26 Greek families. ...
Although previous studies indicate a prevalence of AS of about 1/50,000, a recent publication reported a predicted rate of pathogenic …
Genetic features and kidney morphological changes in women with X-linked Alport syndrome.
Di H, Wang Q, Liang D, Zhang J, Gao E, Zheng C, Yu X, Liu Z. Di H, et al. J Med Genet. 2023 Nov 27;60(12):1169-1176. doi: 10.1136/jmg-2023-109221. J Med Genet. 2023. PMID: 37225412
Furthermore, the association between the degree of GBM lesions and decline in kidney function is valuable in evaluating the prognosis for patients with XLAS....
Furthermore, the association between the degree of GBM lesions and decline in kidney function is valuable in evaluating the prognosis …
Alport Syndrome in Women and Girls.
Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F. Savige J, et al. Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-1720. doi: 10.2215/CJN.00580116. Epub 2016 Jun 10. Clin J Am Soc Nephrol. 2016. PMID: 27287265 Free PMC article.
Recessive inheritance is suspected where women develop early-onset renal failure or lenticonus. Their family may be consanguineous. The prognosis for other family members is very different from X-linked disease. ...Their mutations indicate the mode of inheritance and the l …
Recessive inheritance is suspected where women develop early-onset renal failure or lenticonus. Their family may be consanguineous. The p …
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife.
Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS. Żurowska AM, et al. Kidney Int. 2021 Jun;99(6):1451-1458. doi: 10.1016/j.kint.2020.10.040. Epub 2020 Dec 10. Kidney Int. 2021. PMID: 33309955 Free article.
The phenotypic data of 131 children with X-linked Alport Syndrome and their 195 affected adult relatives revealed that the G624D variant was associated with a significantly milder clinical course in comparison to other pathogenic COL4A5 variants. Furthermore the clinical …
The phenotypic data of 131 children with X-linked Alport Syndrome and their 195 affected adult relatives revealed that the G624D variant was …
Thin basement membrane nephropathy.
Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY. Savige J, et al. Kidney Int. 2003 Oct;64(4):1169-78. doi: 10.1046/j.1523-1755.2003.00234.x. Kidney Int. 2003. PMID: 12969134 Free article. Review.
Most affected individuals have, in addition to the hematuria, minimal proteinuria, normal renal function, a uniformly thinned glomerular basement membrane (GBM) and a family history of hematuria. Their clinical course is usually benign. However, some adults with TBMN have …
Most affected individuals have, in addition to the hematuria, minimal proteinuria, normal renal function, a uniformly thinned glomerular bas …
X-Linked Glomerulopathy Due to COL4A5 Founder Variant.
Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Köttgen A, Cattran D, Paterson AD, Pei Y. Barua M, et al. Am J Kidney Dis. 2018 Mar;71(3):441-445. doi: 10.1053/j.ajkd.2017.09.005. Epub 2017 Dec 1. Am J Kidney Dis. 2018. PMID: 29198386 Review.
Exome sequencing performed in 2 affected related males with an undefined X-linked glomerulopathy characterized by global and segmental glomerulosclerosis, mesangial hypercellularity, and vague basement membrane immune complex deposition revealed a COL4A5 sequence variant, a subst …
Exome sequencing performed in 2 affected related males with an undefined X-linked glomerulopathy characterized by global and segmental glome …
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Omori T, Nakanishi K, Fujimura J, Ashida A, Kitamura M, Kawano M, Shimabukuro W, Kitabayashi C, Imafuku A, Tamagaki K, Kamei K, Okamoto K, Fujinaga S, Oka M, Igarashi T, Miyazono A, Sawanobori E, Fujimaru R, Nakanishi K, Shima Y, Matsuo M, Ye MJ, Nozu Y, Morisada N, Kaito H, Iijima K. Horinouchi T, et al. J Am Soc Nephrol. 2018 Aug;29(8):2244-2254. doi: 10.1681/ASN.2018030228. Epub 2018 Jun 29. J Am Soc Nephrol. 2018. PMID: 29959198 Free PMC article.
CONCLUSIONS: We report unpredictable atypical splicing in the COL4A5 gene in male patients with XLAS and reveal that renal prognosis differs significantly for patients with truncating versus nontruncating splicing abnormalities. ...
CONCLUSIONS: We report unpredictable atypical splicing in the COL4A5 gene in male patients with XLAS and reveal that renal prognosis …
Alport syndrome and thin basement membrane nephropathy.
Thorner PS. Thorner PS. Nephron Clin Pract. 2007;106(2):c82-8. doi: 10.1159/000101802. Epub 2007 Jun 6. Nephron Clin Pract. 2007. PMID: 17570934 Review.
Females who are heterozygous for a COL4A5 mutation are considered to be carriers for X-linked Alport syndrome. Although their clinical course and GBM ultrastructural changes can sometimes mimic TBMN, more often it tends to be more progressive than usually seen in TBMN. ...
Females who are heterozygous for a COL4A5 mutation are considered to be carriers for X-linked Alport syndrome. Although their clinical co …
53 results