Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
نویسندگان
چکیده
منابع مشابه
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)
This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated ...
متن کاملCongenital Anomalies of the Kidney and Urinary Tract (CAKUT).
Congenital anomalies of the kidneys and urinary tract (CAKUT) are found in 3-6 out of 1.000 of the newborns, or according to some statistics they are represented in 0.5% of all pregnancies. Congenital abnormalities of the kidneys and urinary tract present a family of diseases of various anatomic spectrum, including renal anomalies, and anomalies of the bladder and urethra. The study was retrosp...
متن کاملPTHrP-related Hypercalcaemia in Infancy and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
BACKGROUND Severe hypercalcaemia is a rare but clinically significant condition in infancy and childhood. Parathyroid hormone-related peptide (PTHrP)-mediated hypercalcaemia resulting from a malignancy is rare and only a handful of case reports have outlined its incidence alongside a benign condition. OBJECTIVES To describe the diagnostic workup and management of an infant with hypercalcaemia...
متن کاملA holistic approach to CAKUT (Congenital Anomalies of the Kidney and Urinary Tract)
Keywords CAKUT (Congenital Anomalies of the Kidney and Urinary Tract), urinary tract infection, chronic kidney disease, follow-up. Editorial " Structure does not determine Function or vice versa, but both are simply different ways of regarding and describing the same thing. "
متن کاملDisruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common developmental defects in humans. Despite of several known CAKUT-related loci (HNF1B, PAX2, EYA1, etc.), the genetic etiology of CAKUT remains to be elucidated for most patients. In this study, we report that disruption of the Holliday Junction resolvase gene Gen1 leads to renal agenesis, duplex kidney, hydron...
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ژورنال
عنوان ژورنال: Molecular and Cellular Pediatrics
سال: 2021
ISSN: 2194-7791
DOI: 10.1186/s40348-021-00112-0