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1997 1
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63 results

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Page 1
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.
Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. Clissold RL, et al. Nat Rev Nephrol. 2015 Feb;11(2):102-12. doi: 10.1038/nrneph.2014.232. Epub 2014 Dec 23. Nat Rev Nephrol. 2015. PMID: 25536396 Review.
Renal cysts are the most frequently detected feature of HNF1B-associated kidney disease; however, other structural abnormalities, including single kidneys and renal hypoplasia, and electrolyte abnormalities can also occur. Extra-renal phenotypes might also be obs …
Renal cysts are the most frequently detected feature of HNF1B-associated kidney disease; however, other structural abnormalities, including …
New insights into the role of HNF-1β in kidney (patho)physiology.
Ferrè S, Igarashi P. Ferrè S, et al. Pediatr Nephrol. 2019 Aug;34(8):1325-1335. doi: 10.1007/s00467-018-3990-7. Epub 2018 Jul 1. Pediatr Nephrol. 2019. PMID: 29961928 Free PMC article. Review.
Humans who carry HNF1B mutations develop heterogeneous renal abnormalities, including multicystic dysplastic kidneys, glomerulocystic kidney disease, renal agenesis, renal hypoplasia, and renal interstitial fibrosis. In the embryonic kidney, HNF-1beta is required fo …
Humans who carry HNF1B mutations develop heterogeneous renal abnormalities, including multicystic dysplastic kidneys, glomerulocystic kidney …
Renal coloboma syndrome.
Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL. Dureau P, et al. Ophthalmology. 2001 Oct;108(10):1912-6. doi: 10.1016/s0161-6420(01)00722-9. Ophthalmology. 2001. PMID: 11581073
Molecular biology allows detection of the mutations in the PAX2 gene, but can be negative in approximately 50% of cases. The observation of an optic disc coloboma or related abnormality stimulates the ophthalmologist to propose simple nephrologic investigations to check fo …
Molecular biology allows detection of the mutations in the PAX2 gene, but can be negative in approximately 50% of cases. The observation …
Renal hypoplasia can be the cause of membranous nephropathy-like lesions.
Takizawa K, Miura K, Kaneko N, Yabuuchi T, Ishizuka K, Kanda S, Harita Y, Akioka Y, Horita S, Taneda S, Honda K, Hattori M. Takizawa K, et al. Clin Exp Nephrol. 2020 Sep;24(9):813-820. doi: 10.1007/s10157-020-01902-y. Epub 2020 May 19. Clin Exp Nephrol. 2020. PMID: 32424448
BACKGROUND: Renal hypoplasia (RH) is the most common cause of chronic kidney disease in children. ...LM showed segmental spike formation and mesangial hypercellularity and IF study showed segmental granular immunoglobulin G (IgG) staining (IgG1 and IgG3 dominant) al …
BACKGROUND: Renal hypoplasia (RH) is the most common cause of chronic kidney disease in children. ...LM showed segmental spike …
Diverse phenotypes in children with PAX2-related disorder.
Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, Zhang H, Xu K, Wang S, Wang F, Ding J. Deng H, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e701. doi: 10.1002/mgg3.701. Epub 2019 May 6. Mol Genet Genomic Med. 2019. PMID: 31060108 Free PMC article.
Proteinuria, abnormal renal function, and structure were found in all patients. Renal hypoplasia and renal cysts were found in 10 of 10 and five of 10 cases, respectively. ...PAX2-related ocular abnormalities were found in five of seven cases and three patients were …
Proteinuria, abnormal renal function, and structure were found in all patients. Renal hypoplasia and renal cysts were found in …
Familial Williams-Beuren syndrome.
Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M. Ounap K, et al. Am J Med Genet. 1998 Dec 28;80(5):491-3. doi: 10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9880214
However, her combined symptoms make it very clear that she had WBS. Two traits uncommon in WBS were observed, unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son....
However, her combined symptoms make it very clear that she had WBS. Two traits uncommon in WBS were observed, unilateral renal …
Bilateral Renal Hypoplasia with High beta2-Microglobulinuria in the Neonatal Period.
Nagai S, Fujioka K, Minamikawa S, Nozu K, Iijima K. Nagai S, et al. Kobe J Med Sci. 2021 Aug 2;67(1):E34-E37. Kobe J Med Sci. 2021. PMID: 34344855 Free PMC article.
Furthermore, beta2-MG levels in fetal blood and urine are also used for predicting fetal renal function because beta2-MG is not transferred to the placenta. Herein, we reported a patient with persistent high urinary beta2-MG levels since neonatal period, who was later diag …
Furthermore, beta2-MG levels in fetal blood and urine are also used for predicting fetal renal function because beta2-MG is not trans …
Molecular basis of a new ovine model for human 3M syndrome-2.
Woolley SA, Hayes SE, Shariflou MR, Nicholas FW, Willet CE, O'Rourke BA, Tammen I. Woolley SA, et al. BMC Genet. 2020 Sep 15;21(1):106. doi: 10.1186/s12863-020-00913-8. BMC Genet. 2020. PMID: 32933480 Free PMC article.
BACKGROUND: Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS, OMIA 001595-9940 ) is a previously reported recessively inherited disorder in Australian Poll Merino/Merino sheep. ...Obscurin like cytoskeletal adaptor 1 (OBSL1) was selected as a strong …
BACKGROUND: Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS, OMIA 001595-9940 ) is a previously reported rece …
Diagnosis and complications of renovascular hypertension in children: literature data and clinical observations.
Burnei G, Burnei A, Hodorogea D, Drăghici I, Georgescu I, Vlad C, Gavriliu S. Burnei G, et al. J Med Life. 2009 Jan-Mar;2(1):18-28. J Med Life. 2009. PMID: 20108487 Free PMC article. Review.
These exams showed the next direct causes of renovascular hypertension: bilateral chronic pyelonephritis in 4 cases--21.4%, hydronephrosis in 3 cases--16.2%, congenital renal hypoplasia in 2 cases--10.4% and doubled kidney in 2 cases--10.4%. ...
These exams showed the next direct causes of renovascular hypertension: bilateral chronic pyelonephritis in 4 cases--21.4%, hydronephrosis i …
PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.
Negrisolo S, Benetti E. Negrisolo S, et al. Int J Mol Sci. 2023 Feb 19;24(4):4165. doi: 10.3390/ijms24044165. Int J Mol Sci. 2023. PMID: 36835576 Free PMC article.
Two unrelated patients and two twins carrying one known and two unknown PAX2 variations were observed. The frequency of PAX2-related disorders in this cohort was 5.8%, considering all CAKUT phenotypes (16.7% in the PAPRS phenotype and 2.5% in non-syndromic CAKUT). Although …
Two unrelated patients and two twins carrying one known and two unknown PAX2 variations were observed. The frequency of PAX2-related …
63 results