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Renal Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Isolated primary VUR is an autosomal dominant disorder with incomplete penetrance and variable expression; the genetic defect is unknown. Rarely primary VUR can be inherited (although several candidate loci have been defined) as part of a syndrome (e.g. with optic nerve colobomata when mutations of PAX2 have been described).
Kidneys and ureters
Published in Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie, Bailey & Love's Short Practice of Surgery, 2018
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie
The urinary tract is formed from the cloaca and intermediate mesoderm in parallel with the early differentiation of the metanephric blastema which will ultimately form the kidney. In the 6-week-old embryo, the mesonephric (Wolffian) duct and the paramesonephric (Mullerian) ducts run in parallel. By week 7, in the male, the Mullerian duct starts to regress, and the Wolffian duct will eventually develop into the epididymis and the caudal part of the vas deferens. In the female, the Mullerian ducts fuse to form the uterovaginal cord which will develop into the vagina. As the urogenital tract develops, there is simultaneous development of the fetal kidney. The ureteric bud arises from the distal end of the Wolffian duct as an unbranched diverticulum and invades the adjacent metanephric mesenchyme, initiating the branching collecting system within the primitive kidney. If the ureteric bud fails to develop, the kidney will not form. Renal development is controlled by the function of a number of transcription factors including PAX-2 and WT1.
Embryology of the Female Urogenital System and Clinical Applications
Published in Linda Cardozo, Staskin David, Textbook of Female Urology and Urogynecology - Two-Volume Set, 2017
With current methods of moleculAr biology, the complex chemistry underlying these reciprocAl interActions is being clArified, And severAl exAmples Are offered here. trAnscription fActor PAX2 is expressed during normAl kidney development And ActivAtes Wnt4 gene expression. PAX2 knockout mice Are Anephric, while A heterozygous PAX2 mutAtion results in A 60% decreAse in Wnt4 mrnA [49]. In vitro studies hAve shown thAt gliAl cell–derived neurotrophic fActor (GDnF) secreted by the metAnephric mesenchyme serves to induce ureterAl budding [38]. This is supported by the observAtion thAt the ureters And kidney do not develop in GDnF knockout mice. It hAs Also been shown thAt gene products thAt AntAgonize GDnF expression such As FoXc1 (Figure 22.9) [38] or bMP4 [50] cAn result in multiple bud formAtion And duplex collecting systems. There is Also A role for retinoic Acid–mediAted signAling in the development of the ureterAl buds And trigone As shown in A model using tArgeted deletion of the retinoic Acid receptors [36]. AbnormAl vesicoureterAl development hAs Also been demonstrAted in the presence of tArgeted ret overexpression [51] or the deletion of the type 2 Angiotensin receptor [52].
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication
Published in Ophthalmic Genetics, 2020
Kai Ching Peter Leung, Tak Chuen Simon Ko
PAX2 gene (10q24.31) related changes could result in abnormalities that resemble phenotypic features in our proband. PAX2 mutations are known to play an important role in embryogenesis of the renal and ophthalmological system (27). Abnormalities in PAX2 gene may result in Renal-Coloboma syndrome, which is characterized by associated with renal dysgenesis and optic nerve colobomatous changes (28). However, this syndrome points against the diagnosis in our case as the degree of renal abnormality is rather mild, the size of the kidney is normal, has normal renal function without other urological abnormalities, e.g. VUR and absences of other extra-renal features, e.g. auditory, dermatological, and joint involvement.