Congenital anomalies of kidney and urinary tract
Dernière mise à jour 21 mars 2023
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Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.
Description
Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.
Individuals with CAKUT have one or more kidney or urinary tract abnormalities. For paired structures, like the kidneys and ureters, one or both may be affected. Many different developmental abnormalities are classified as CAKUT, including underdevelopment or absence of a kidney (renal hypodysplasia or agenesis), a kidney formed of fluid-filled sacs called cysts (multicystic dysplastic kidney), buildup of urine in the kidneys (hydronephrosis), an extra ureter leading to the kidney (duplex kidney or duplicated collecting system), a blockage in a ureter where it joins the kidney (ureteropelvic junction obstruction), an abnormally wide ureter (megaureter), backflow of urine from the bladder into the ureter (vesicoureteral reflux), and an abnormal membrane in the urethra that blocks the flow of urine out of the bladder (posterior urethral valve).
CAKUT varies in severity. The abnormalities can result in recurrent urinary tract infections or a buildup of urine in the urinary tract, which may damage the kidneys or other structures. Severe CAKUT can result in life-threatening kidney failure and end-stage renal disease.
CAKUT is often one of several features of a condition that affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in addition to other problems. However, urinary system abnormalities sometimes occur without other signs and symptoms, which is known as nonsyndromic or isolated CAKUT.
Inheritance patterns
The source lists the following possible inheritance patterns: Pattern unknown; Autosomal recessive; Not inherited; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
CAKUT
Related patient information and medicines
Patient information leaflet
Syndrome néphrotique
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. Treatment and outcome (prognosis) vary, depending on the cause. The thickening can be seen under a microscope if a sample of kidney is taken for testing. Syndrome néphrotique congénital This is a rare.
Patient information leaflet
Maladie polykystique des reins
Polycystic kidney disease (PKD) causes many fluid-filled sacs (cysts) à develop dans le kidneys. The most common type of PKD est un inherited condition called autosomal dominant polycystic kidney disease (ADPKD). With ADPKD, problems commonly do not develop until the age of 30-50, with some people never developing any problems. Autosomal recessive.
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Incontinence urinaire
Incontinence urinaire is a common problem, affecting women more commonly than men. Stress incontinence and urge incontinence are the most common types of in... This leaflet provides a general overview of urinary incontinence. It may help you to understand the bladder and why incontinence occurs. Other types of incontinence These include.
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Urographie intraveineuse
Urographie intraveineuse is a test that uses X-rays and a special dye to help assess your kidneys, ureters, bladder et urethra. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. What is intravenous urography. Urographie intraveineuse (also known as intravenous.
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Hyperplasie congénitale des surrénales
Hyperplasie congénitale des surrénales is an inherited (genetic) condition causing swelling of the adrenal glands. The condition is associated with a decrease in the blood level of a hormone called cortisol and an increase in the level of male sex hormones (androgens) in both sexes. What is congenital adrenal hyperplasia. Congenital adrenal hyperplasia.
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Infection urinaire chez les enfants
Urine infection in children is common. A course of medicines called antibiotics will usually clear the infection quickly. In most cases, a child with a urine infection will make a full recovery. Sometimes tests to check on the kidneys and/or bladder are advised after the infection has cleared. This depends on your child's age, the severity of the.
Lectures complémentaires et références
- Congenital anomalies of kidney and urinary tract; MedlinePlus, National Library of Medicine.
- Capone VP, Morello W, Taroni F, Montini G. Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. Int J Mol Sci. 2017 Apr 11;18(4):796. doi: 10.3390/ijms18040796.
- Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.
- Nicolaou N, Renkema KY, Bongers EM, Giles RH, Knoers NV. Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol. 2015 Dec;11(12):720-31. doi: 10.1038/nrneph.2015.140. Epub 2015 Aug 18.
- Sanna-Cherchi S, Westland R, Ghiggeri GM, Gharavi AG. Genetic basis of human congenital anomalies of the kidney and urinary tract. J Clin Invest. 2018 Jan 2;128(1):4-15. doi: 10.1172/JCI95300. Epub 2018 Jan 2.
- Vivante A, Kohl S, Hwang DY, Dworschak GC, Hildebrandt F. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol. 2014 Apr;29(4):695-704. doi: 10.1007/s00467-013-2684-4. Epub 2014 Jan 8.
- Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, Wuhl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. doi: 10.1681/ASN.2006030277. Epub 2006 Sep 13.
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