Congenital and Developmental Abnormalities of the Urinary Tract

2019 ◽  
Vol 47 (7) ◽  
pp. 865-886 ◽  
Author(s):  
Susan A. Elmore ◽  
Sanam L. Kavari ◽  
Mark J. Hoenerhoff ◽  
Beth Mahler ◽  
Brittany E. Scott ◽  
...  

Congenital abnormalities of the urinary tract are some of the most common human developmental abnormalities. Several genetically engineered mouse models have been developed to mimic these abnormalities and aim to better understand the molecular mechanisms of disease. This atlas has been developed as an aid to pathologists and other biomedical scientists for identification of abnormalities in the developing murine urinary tract by cataloguing normal structures at each stage of development. Hematoxylin and eosin- and immunohistochemical-stained sections are provided, with a focus on E10.5-E18.5, as well as a brief discussion of postnatal events in urinary tract development. A section on abnormalities in the development of the urinary tract is also provided, and molecular mechanisms are presented as supplementary material. Additionally, overviews of the 2 key processes of kidney development, branching morphogenesis and nephrogenesis, are provided to aid in the understanding of the complex organogenesis of the kidney. One of the key findings of this atlas is the histological identification of the ureteric bud at E10.5, as previous literature has provided conflicting reports on the initial point of budding. Furthermore, attention is paid to points where murine development is significantly distinct from human development, namely, in the cessation of nephrogenesis.


Author(s):  
Lihong Tan ◽  
Minghui Yu ◽  
Yaxin Li ◽  
Shanshan Xue ◽  
Jing Chen ◽  
...  

Congenital anomalies of the kidney and urinary tract (CAKUT) is a common birth defect and is the leading cause of end-stage renal disease in children. The etiology of CAKUT is complex and includes mainly genetic and environmental factors. However, these factors cannot fully explain the etiological mechanism of CAKUT. Recently, participation of long non-coding RNAs (lncRNAs) in the development of the circulatory and nervous systems was demonstrated; however, the role of lncRNAs in the development of the kidney and urinary tract system is unclear. In this study, we used the piggyBac (PB) transposon-based mutagenesis to construct a mouse with lncRNA 4933425B07Rik (Rik) PB insertion (RikPB/PB) and detected overexpression of Rik and a variety of developmental abnormalities in the urinary system after PB insertion, mainly including renal hypo/dysplasia. The number of ureteric bud (UB) branches in the RikPB/PB embryonic kidney was significantly decreased in embryonic kidney culture. Only bone morphogenetic protein 4 (Bmp4), a key molecule regulating UB branching, is significantly downregulated in RikPB/PB embryonic kidney, while the expression levels of other molecules involved in the regulation of UB branching were not significantly different according to the RNA-sequencing (RNA-seq) data, and the results were verified by quantitative real-time polymerase chain reaction (RT-PCR) and immunofluorescence assays. Besides, the expression of pSmad1/5/8, a downstream molecule of BMP4 signaling, decreased by immunofluorescence. These findings suggest that abnormal expression of Rik may cause a reduction in the UB branches by reducing the expression levels of the UB branching-related molecule Bmp4, thus leading to the development of CAKUT.


2019 ◽  
Vol 15 (3-4) ◽  
pp. 54-58
Author(s):  
O.O. Kryzhanivska

Relevance. In recent years, many have been devoted to the problem of the temporomandibular joint (TMJ) diseases, in which the attention is paid to the widespread pathology of TMJ at young people, which develops against the background of genetically-determined weakness of connective tissue (CT), which is also present occurrence of various concomitant diseases of polygenic-multifactorial nature, including the organs of the urinary system (US). Objective. To investigate the manifestations of US pathology in young patients with TMJ diseases. Materials and methods. The study involved 32 patients (m-4, w-28) with diseases of the TMJ, whose average age was 31.6 ± 7.7 years, who were treated at the Dental Medical Center of the Bogomolets NMU. Manifestations of US pathology in patients of this group have been investigated. Examination of patients was performed according to the classical method of examination of patients with diseases of the TMJ. The orthopantomography with examination of the mandibular heads, open mouth X-ray by Parma, computed tomography or MRI scan, iridobiomicroscopy were obligatory. The presence of pathology of US was founding out from the anamnesis vitae, the patient was referred for consultation to a nephrologist. Ultrasound of the kidneys, urinary tract, urine tests were performed for all examined patients. The obtained laboratory data were referenced in the International System of Units and processed by variational statistics using MedStat and EZR v.1.35 (Saitama Medical Center, Jichi Medical University, Saitama, Japan, 2017), which is a graphical interface to RFSC (The R Foundation for Statistical Computing, Vienna, Austria). Results. The following manifestations of TMJ pathology were found in young patients with US diseases: chronic cystitis – 37.5% of cases, oxalate or urinary crystalluria – 37.5 %, nephroptosis – 9.4 %, urolithiasis – 6.3 %, chronic pyelonephritis – 6.3 %, double kidney – 3.1 %. Structural local or chromatic changes of the iris stroma in the projection region of the kidney (75 %) and bladder (43.6 %) in young patients with TMJ diseases showed a congenital weakness of the CT of these organs and a tendency to develop pathology of the US. Changes in urine tests were mainly in the form of oxalate crystalluria (34.4 %), increase specific gravity (15.6 %), proteinuria (9.4 %), which further confirmed the present pathology of the urinary system. Conclusions. The manifestations of developmental abnormalities and other kidney and bladder diseases found in young patients with TMJ disease suggest that there is a correlation between flow of pathological processes in the TMJ and US, which may be based on changes in the CT system. When planning the treatment of young patients with TMJ diseases and pathology of US, medicines that do not affect the urinary system and do not provoke exacerbation of the disease should be prescribed. In the presence of pathology of the kidneys and/or urinary tract, the ultrasound of this system should be prescribed in consultation with a nephrologist.


2010 ◽  
Vol 3 ◽  
pp. CCRep.S5347 ◽  
Author(s):  
Anis Fadhlaoui ◽  
Mohamed Khrouf ◽  
Soumaya Gaigi ◽  
Fethi Zhioua ◽  
Anis Chaker

We report a case of sirenomelia sequence observed in an incident of preterm labor during the 29th gestational week. According to some authors, this syndrome should be classified separately from caudal regression syndrome and is likely to be the result of an abnormality taking place during the fourth gestational week, causing developmental abnormalities in the lower extremities, pelvis, genitalia, urinary tract and digestive organs. Despite recent progress in pathology, the etiopathogenesis of sirenomelia is still debated.


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