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1989 1
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Page 1
Congenital and infantile nephrotic syndromes.
Norio R, Rapola J. Norio R, et al. Prog Clin Biol Res. 1989;305:179-92. Prog Clin Biol Res. 1989. PMID: 2668971 Review.
A nephrotic syndrome which appears during the first few months of life always provides a diagnostic challenge. ...The histopathological diagnosis diffuse mesangial sclerosis (DMS) was supposed to represent another etiological entity, probably also autosomal …
A nephrotic syndrome which appears during the first few months of life always provides a diagnostic challenge. ...The histopat …
Pregnancy in women with Alport syndrome.
Crovetto F, Moroni G, Zaina B, Acaia B, Ossola MW, Fedele L. Crovetto F, et al. Int Urol Nephrol. 2013 Aug;45(4):1223-7. doi: 10.1007/s11255-012-0154-8. Epub 2012 Mar 15. Int Urol Nephrol. 2013. PMID: 22418765 Review.
BACKGROUND: Little is known about pregnancy in women with Alport syndrome (AS), as only four cases have been reported in the literature. We herein describe the course of pregnancy in two sisters with overt forms of AS. CASES: Both women were diagnosed as having autosoma …
BACKGROUND: Little is known about pregnancy in women with Alport syndrome (AS), as only four cases have been reported in the literatu …
Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.
Deltas C, Savva I, Voskarides K, Papazachariou L, Pierides A. Deltas C, et al. Nephron. 2015;130(4):271-80. doi: 10.1159/000435789. Epub 2015 Jul 17. Nephron. 2015. PMID: 26201269 Review.
Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the X-linked form of AS, which is caused by he …
Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alpor …
Living donor kidney transplantation in patients with hereditary nephropathies.
Niaudet P. Niaudet P. Nat Rev Nephrol. 2010 Dec;6(12):736-43. doi: 10.1038/nrneph.2010.122. Epub 2010 Sep 28. Nat Rev Nephrol. 2010. PMID: 20877305 Review.
Patients with some hereditary nephropathies-including autosomal dominant polycystic kidney disease (ADPKD), Fabry disease and Alport syndrome-can progress to end-stage renal disease (ESRD) and are candidates for kidney transplantation. ...Renal transplantatio …
Patients with some hereditary nephropathies-including autosomal dominant polycystic kidney disease (ADPKD), Fabry disease and …
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis.
Winn MP. Winn MP. Nephrol Dial Transplant. 2003 Aug;18 Suppl 6:vi14-20. doi: 10.1093/ndt/gfg1070. Nephrol Dial Transplant. 2003. PMID: 12953036 Review.
FSGS has been characterized previously as having primary (idiopathic), secondary and familial forms. In the latter category, both autosomal recessive and dominant inheritance patterns have been reported. ...Genes associated with many familial renal disorders that le …
FSGS has been characterized previously as having primary (idiopathic), secondary and familial forms. In the latter category, both autosom …
Hereditary disorders of the glomerular basement membrane.
Smeets HJ, Knoers VV, van de Heuvel LP, Lemmink HH, Schröder CH, Monnens LA. Smeets HJ, et al. Pediatr Nephrol. 1996 Dec;10(6):779-88. doi: 10.1007/s004670050217. Pediatr Nephrol. 1996. PMID: 8971907 Review.
The autosomal recessive form can be explained by mutations in the COl4A3 and COl4A4 gene. ...The Finnish type is the best known of the different forms of congenital nephrotic syndrome. The gene has been mapped to the long arm of chromosome 19. ...
The autosomal recessive form can be explained by mutations in the COl4A3 and COl4A4 gene. ...The Finnish type is the best know …
Lipoprotein glomerulopathy: first report of 2 not consanguineous Italian men from the same town.
Pasquariello A, Pasquariello G, Innocenti M, Minnei F, Funel N, Lorusso P, Barsotti G. Pasquariello A, et al. J Nephrol. 2011 May-Jun;24(3):381-5. doi: 10.5301/JN.2011.7772. J Nephrol. 2011. PMID: 21534236 Review.
Several specific studies conducted by Saito et al on his patients from 1989, revealed that it was an hereditary disease with an autosomal recessive pattern that predominantly affects patients of Asian ancestry, mainly the Japanese population, but which very s …
Several specific studies conducted by Saito et al on his patients from 1989, revealed that it was an hereditary disease with an au …
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S, Tönshoff B. Weber S, et al. Transplantation. 2005 Sep 27;80(1 Suppl):S128-34. doi: 10.1097/01.tp.0000187110.25512.82. Transplantation. 2005. PMID: 16286890 Review.
Risk factors for recurrence are a chronological age <15 years at onset of the nephrotic syndrome and a rapid progression of the disease in the native kidneys leading to end-stage renal disease in less than 3 years. ...In the last decade, mutations in genes encodi …
Risk factors for recurrence are a chronological age <15 years at onset of the nephrotic syndrome and a rapid progression of …