renal hypodysplasia
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Definition: Renal hypodysplasia (RHD) is characterized by reduced kidney size and maldevelopment of the renal tissue following abnormal organogenesis.
Renal hypodyspasia associates bilateral non-obstructive renal dysplasia (BNORD) and bilateral non-obstructive renal hypoplasia(BNORH).
Renal hypodysplasia is characterized by a decrease in nephron number, a small overall kidney size, and a maldeveloped renal tissue.
Types
non-syndromal renal hypodysplasia (HP.10934) (MIM.610805)
syndromal renal hypodysplasia
Candidate genes
Mutations or variants in candidate genes TCF2, PAX2, EYA1, SIX1, SALL1 in 17% (#16971658#)
- TCF2 (renal cysts and diabetes syndrome): 7% (#16971658#)
- PAX2 (renal-coloboma syndrome): 6% (#16971658#)
- EYA1 and SIX1 (branchio-oto-renal syndrome): 1% (#16971658#)
- SALL1 (Townes-Brocks syndrome): 1% (#16971658#)
- SIX2 (#18305125#)
- BMP4 (#18305125#)
Mutations in Uroplakin IIIA (#16731295#)
Case records
References
Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C; Escape Network, Schaefer F, Burdine RD. SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development. J Am Soc Nephrol. 2008 Feb 27; PMID: #18305125#
Sanna-Cherchi S, Caridi G, Weng PL, Dagnino M, Seri M, Konka A, Somenzi D, Carrea A, Izzi C, Casu D, Allegri L, Schmidt-Ott KM, Barasch J, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. Am J Hum Genet. 2007 Mar;80(3):539-49. PMID: #17273976#
Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, Wuhl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. PMID: #16971658#
Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group. Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis. 2006 Jun;47(6):1004-12. PMID: #16731295#
Pope JC 4th, Brock JW 3rd, Adams MC, Stephens FD, Ichikawa I. How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT. J Am Soc Nephrol. 1999 Sep;10(9):2018-28. PMID: #10477156#
Glassberg KI, Stephens FD, Lebowitz RL, Braren V, Duckett JW, Jacobs EC, King LR, Perlmutter AD. Renal dysgenesis and cystic disease of the kidney: a report of the Committee on Terminology, Nomenclature and Classification, Section on Urology, American Academy of Pediatrics. J Urol. 1987 Oct;138(4 Pt 2):1085-92. PMID: #3309374#