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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].
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Ocular coloboma: Renal coloboma syndrome (papillorenal syndrome) also presents with renal abnormalities and occasional hearing loss, but no other malformations; it is caused by mutations in the gene PAX2. Cat-eye syndrome is caused by a chromosomal anomaly (supernumerary invdup(22)(q11)) and is typically characterised by the association of colobomas, rectal atresia with fistula, urogenital and cardiac malformations and preauricular tags or pits. Joubert syndrome presents with cerebellar vermis aplasia/ hypoplasia and the typical ‘molar tooth sign’ on neuroimaging; also has polydactyly and fibrosis of the kidney and liver. Coloboma associated with growth retardation and cardiac anomalies can sometimes be found in Kabuki syndrome, which shows very distinctive facial features.
Targeted drug delivery strategy: a bridge to the therapy of diabetic kidney disease
Published in Drug Delivery, 2023
Xian Chen, Wenni Dai, Hao Li, Zhe Yan, Zhiwen Liu, Liyu He
RETCs are vital target cells in the kidney targeted drug delivery systems for preventing renal fibrosis of DKD. PLGA-Gypenoside (Gyp) XLIX nanoparticles can effectively reduce collagen deposition and inhibit renal fibrosis in RETCs (HK2) cells stimulated by TGF-β (Q Liu et al., 2021). FITC labeled renal tubular-targeting peptide modified PLGA-PEG nanoparticles are used to transfer asiatic acid, which exhibits renal protective and anti-fibrosis effects (He et al., 2020). Pax2 gene, associating with interstitial fibrosis, is expressed in RTECs, and polyethyleneimine nanoparticles are employed to deliver Pax2-siRNA to RTECs, which can ameliorate the tubular damage and interstitial fibrosis (Li et al., 2012). Autophagy has been reported to be involved in the albuminuria caused renal tubular injury, and Fe3O4 magnetic nanoparticles are related to the autophagy. Fe3O4 magnetic albumin nanoparticles can alleviate renal tubular injury and delay the development of tubulointerstitial fibrosis (L Liu et al., 2021).
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.
Omega-3 attenuates high fat diet-induced kidney injury of female rats and renal programming of their offsprings
Published in Archives of Physiology and Biochemistry, 2019
Asmaa Mohammed Shamseldeen, Mohammed Ali Eshra, Laila Ahmed Rashed, Marwa Fathy Amer, Amal Elham Fares, Samaa Samir Kamar
Paired box2 (Pax2) gene controls renal development the presentvia interaction with other transcriptional factor; Wnt4 for branching organisation, morphogenesis, and nephron induction (Hou et al.2011). Pax2 as well as renin–angiotensin system (RAS) play an essential role in the developmental programing of nephrons (Costantini and Kopan 2010). In addition, alteration in renal hemodynamics secondary to altered RAS contributes to the development of hypertension (Paixao and Alexande 2013).