Kidney malformations

Maturity-onset diabetes of the young comprises a large group of autosomal inherited gene mutations. Maturity-onset diabetes of the young subtype 5 is caused by mutations in the HNF1B gene. This gene is expressed in the early phase of embryonic development in the pancreas, kidneys, liver, and genital tract; therefore, kidney or urinary tract malformations are associated with diabetes mellitus.

6p vidoctorstrange 06-05-2023 4 2   Download

Part 1 of ebook "Obstetric imaging: Fetal diagnosis and care" provide readers with content about: atlas of selected normal images; thorax; congenital cystic adenomatoid malformation of the lung; bronchopulmonary sequestration; scimitar syndrome; retroperitoneum; abnormal kidney location; abnormal kidney size; bilateral renal agenesis; unilateral renal agenesis; duplicated collecting system; multicystic dysplastic kidney;...

441p duonghoanglacnhi 07-11-2022 21 7   Download

Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures.

23p viaristotle 29-01-2022 8 0   Download

Cornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome.

4p vinaypyidaw2711 26-08-2020 13 2   Download

(bq) part 1 book "color atlas of pediatric pathology" presents the following contents: placenta, congenital malformation syndromes, infections, the skin, soft tissue lesions, bone and joints, the heart, the lung and mediastinum, the kidney, female and male reproductive systems.

247p thangnamvoiva6 19-07-2016 47 2   Download

The tissue-specific transcription factorsHNF1aandHNF1b are closely related homeodomain proteins conserved in vertebrate evolution. Heterozygous mutations in human HNF1b 1 but not inHNF1agenes are associated with kidney malformations. Overexpression of HNF1b in Xenopus embryos leads to defective pronephros development, while HNF1ahas no effect. We have defined the regions respon-sible for this functional difference between HNF1band HNF1ain transfected HeLa cells as well as in injected Xenopusembryos. ...

14p awards 05-04-2013 41 2   Download

CKD in children is the result of heterogeneous  diseases  of  the  kidney  and  urinary  tract  that  range from common congenital malformations  of  the  urinary  tract,  to  rare  inborn  errors  of  metabolism that affect kidney  function[1] . CKD  is  an  irreversible  condition  that  eventually  progresses  to end stage renal disease  (ESRD).  It is an important cause of morbidity and  mortality in children worldwide [2,3] .       The  causes  of  CKD  vary  from  one  geographic area to another due to genetic and  environmental  factors.

7p connicquy 14-12-2012 53 1   Download

Congenital abnormalities of the kidney and urinary tract are reported to occur in 5 to 10% of the population [9]. They represent 25% of the total ultrasonographically diagnosed malformations that occur in 0.25–0.7% of fetuses. About 1/3 to 2/3 of ESRD in children are due to congenital ab- normalities of the kidney and urinary tract. In addition, these abnormalities occur in 23% of patients with chromosomal aberrations, and 2/3 of patients with abnormalities of other organ systems.

0p connhobinh 10-12-2012 39 0   Download