Renal System - Abnormalities - Revision history

Z8600021 at 16:52, 11 Mayıs 2020

2020-05-11T16:52:33Z

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	'''Search Pubmed:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Obstructive%20Renal%20Pelvis%20Defects Obstructive Renal Pelvis Defects] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Renal%20Agenesis Renal Agenesis] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=hydronephrosis hydronephrosis] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Ureterocele Ureterocele]		'''Search Pubmed:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Obstructive%20Renal%20Pelvis%20Defects Obstructive Renal Pelvis Defects] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Renal%20Agenesis Renal Agenesis] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=hydronephrosis hydronephrosis] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Ureterocele Ureterocele]

			===Historic===

			{{Ref-Vermooten1951}}

			{{Ref-SmithStrasberg1946}}

			{{Ref-RuscheBacon1939}}

			{{Ref-Randall1937}}

			{{Ref-MortonJones1936}}

			{{Ref-Bell1935}}

			{{Ref-Oppenheimer1934}}

			{{Ref-Abbott1930}}

			{{Ref-PapinEisendrath1927}}

			{{Ref-Piersol1927}}

			{{Ref-HinmanGibsonKutzmann1924}}

			{{Ref-Eisendrath1917}}

			{{Ref-Braasch1912}}

			{{Ref-Eisendrath1912}}

			{{Ref-Spicer1909}}

			{{Ref-Hamann1902}}

	==Terms==		==Terms==

Z8600021 at 09:00, 11 Mayıs 2020

2020-05-11T09:00:45Z

← Older revision		Revision as of 20:00, 11 Mayıs 2020
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}

	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Abnormal+Renal+Development ''Abnormal Renal Development''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Renal+Fusion ''Renal Fusion''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Horseshoe+Kidney ''Horseshoe Kidney''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Polycystic+Kidney+Disease ''Polycystic Kidney Disease''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital+Nephrotic+Syndrome\|''Congenital Nephrotic Syndrome'']]		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Abnormal+Renal+Development ''Abnormal Renal Development''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Renal+Fusion ''Renal Fusion''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Horseshoe+Kidney ''Horseshoe Kidney''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Polycystic+Kidney+Disease ''Polycystic Kidney Disease''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital+Nephrotic+Syndrome\|''Congenital Nephrotic Syndrome'']]
			[http://www.ncbi.nlm.nih.gov/pubmed/?term=Triad+Syndrome ''Triad Syndrome''] \|
	\|}		\|}
	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"

Z8600021 at 02:25, 3 Mayıs 2020

2020-05-03T02:25:33Z

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			* '''Embryology and Morphological (Mal)Development of Ureteropelvic Junction'''{{#pmid:32318525\|PMID32318525}} "Kidney parenchyma and collecting system arise from two different embryologic units as a result of a close interaction between them. Therefore, their congenital abnormalities are classified together under the same heading named CAKUT (congenital abnormalities of the kidney and urinary tract). The pathogenesis of CAKUT is thought to be multifactorial. Ureteropelvic junction obstruction (UPJO) is the most common and most investigated form of CAKUT. Despite years of experimental and clinical research, and the information gained on the embryogenesis of the kidney; its etiopathogenesis is still unclear. It involves both genetic and environmental factors. Failure in development of the renal pelvis, failure in the recanalization of ureteropelvic junction, abnormal pyeloureteral innervation, and impaired smooth muscle differentiation are the main proposed mechanisms for the occurrence of UPJO. There are also single gene mutations like AGTR2, BMP4, Id2 proposed in the etiopathogenesis of UPJO."

	* '''Ectopias of the kidney, urinary tract organs, and male genitalia'''{{#pmid:30446779\|PMID30446779}} "The most frequent anomaly of the urogenital tract is a simple renal ectopia with one organ lying in the pelvis. Crossed renal ectopia is a less common condition in which the ectopic kidney is located on the opposite side of the midline from the ureteral insertion in the urinary bladder. The cause of both types of renal ectopia is the arrest or failure of the kidney ascent from the pelvic to the lumbar position. Whereas an accelerated ascent leads to a subdiaphragmal or intrathoracic ectopic position, an ectopic ureter can be defined as one that does not drain into the trigonum vesicae. The ectopic orificium can be located situated in the bladder neck and urethra as well as somewhere in the genital area.Exstrophy of the urinary bladder is not a complete ectopia. Because the abdominal wall and the anterior part of the bladder wall are lacking, the bladder mucosa grows directly into the skin. The complex exstrophy of the bladder and intestine corresponds to a cloacal exstrophy, in which the bladder is split in two halves on either side of the gut portion. Testicular ectopia refers to the location of the testis in a position outside of its normal course of descent.Prostatic ectopia does not refer to the wrong location of the entire organ, but to a scattered group of prostate glands, which are mostly found in the submucosal part of the urinary bladder or proximal urethra. Other described locations are the intestinal wall, anus, pericolic fat tissue, spleen, seminal vesicle, testis, and cervix uteri.The associated ectopic penis, scrotum, and penoscrotal transposition are the least common and probably the absolutely most unknown malformations of the male genitalia. The ectopic penis and scrotum are located in the perineum, whereas in the transposition the penis lies above the scrotum."		* '''Ectopias of the kidney, urinary tract organs, and male genitalia'''{{#pmid:30446779\|PMID30446779}} "The most frequent anomaly of the urogenital tract is a simple renal ectopia with one organ lying in the pelvis. Crossed renal ectopia is a less common condition in which the ectopic kidney is located on the opposite side of the midline from the ureteral insertion in the urinary bladder. The cause of both types of renal ectopia is the arrest or failure of the kidney ascent from the pelvic to the lumbar position. Whereas an accelerated ascent leads to a subdiaphragmal or intrathoracic ectopic position, an ectopic ureter can be defined as one that does not drain into the trigonum vesicae. The ectopic orificium can be located situated in the bladder neck and urethra as well as somewhere in the genital area.Exstrophy of the urinary bladder is not a complete ectopia. Because the abdominal wall and the anterior part of the bladder wall are lacking, the bladder mucosa grows directly into the skin. The complex exstrophy of the bladder and intestine corresponds to a cloacal exstrophy, in which the bladder is split in two halves on either side of the gut portion. Testicular ectopia refers to the location of the testis in a position outside of its normal course of descent.Prostatic ectopia does not refer to the wrong location of the entire organ, but to a scattered group of prostate glands, which are mostly found in the submucosal part of the urinary bladder or proximal urethra. Other described locations are the intestinal wall, anus, pericolic fat tissue, spleen, seminal vesicle, testis, and cervix uteri.The associated ectopic penis, scrotum, and penoscrotal transposition are the least common and probably the absolutely most unknown malformations of the male genitalia. The ectopic penis and scrotum are located in the perineum, whereas in the transposition the penis lies above the scrotum."

	* '''Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract'''{{#pmid:26805407\|PMID26805407}} "Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. ...Our study revealed a good prognosis in the majority of these children, in particular with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis, and revealed oligohydramnios and postnatal bilateral anomalies as risk factors for a non-favourable outcome, defined as need of surgery, persistent anomalies with impaired renal function, end stage renal failure or death."

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	\| {{Older papers}}		\| {{Older papers}}
			* '''Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract'''{{#pmid:26805407\|PMID26805407}} "Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. ...Our study revealed a good prognosis in the majority of these children, in particular with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis, and revealed oligohydramnios and postnatal bilateral anomalies as risk factors for a non-favourable outcome, defined as need of surgery, persistent anomalies with impaired renal function, end stage renal failure or death."

	* '''Urothelial Defects from Targeted Inactivation of Exocyst Sec10 in Mice Cause Ureteropelvic Junction Obstructions'''{{#pmid:26046524\|PMID26046524}} "Most cases of congenital obstructive nephropathy are the result of ureteropelvic junction obstructions, and despite their high prevalence, we have a poor understanding of their etiology and scarcity of genetic models. The eight-protein exocyst complex regulates polarized exocytosis of intracellular vesicles in a large variety of cell types. Here we report generation of a conditional knockout mouse for Sec10, a central component of the exocyst, which is the first conditional allele for any exocyst gene. Inactivation of Sec10 in ureteric bud-derived cells using Ksp1.3-Cre mice resulted in severe bilateral hydronephrosis and complete anuria in newborns, with death occurring 6-14 hours after birth."		* '''Urothelial Defects from Targeted Inactivation of Exocyst Sec10 in Mice Cause Ureteropelvic Junction Obstructions'''{{#pmid:26046524\|PMID26046524}} "Most cases of congenital obstructive nephropathy are the result of ureteropelvic junction obstructions, and despite their high prevalence, we have a poor understanding of their etiology and scarcity of genetic models. The eight-protein exocyst complex regulates polarized exocytosis of intracellular vesicles in a large variety of cell types. Here we report generation of a conditional knockout mouse for Sec10, a central component of the exocyst, which is the first conditional allele for any exocyst gene. Inactivation of Sec10 in ureteric bud-derived cells using Ksp1.3-Cre mice resulted in severe bilateral hydronephrosis and complete anuria in newborns, with death occurring 6-14 hours after birth."

Z8600021 at 23:03, 23 Ocak 2020

2020-01-23T23:03:21Z

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	==Nephrotic Syndrome==		==Nephrotic Syndrome==
			[[File:Nephron EM01.jpg\|thumb\|Alt=podocyte filtration slits of glomerulus\|podocyte filtration slits of glomerulus{{#pmid:25918223\|PMID25918223}}]]
	(Congenital Nephrotic syndrome, lipoid nephrosis)		(Congenital Nephrotic syndrome, lipoid nephrosis)

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	* '''podocin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS2 gene location {{Chr1}}q25.2, mutations in this gene are associated with Congenital Nephrotic Syndrome (Nephrotic syndrome). (More? {{renal abnormalities}})		* '''podocin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS2 gene location {{Chr1}}q25.2, mutations in this gene are associated with Congenital Nephrotic Syndrome (Nephrotic syndrome). (More? {{renal abnormalities}})


	==References==		==References==

Z8600021 at 22:57, 23 Ocak 2020

2020-01-23T22:57:32Z

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	==Nephrotic Syndrome==		==Nephrotic Syndrome==
	(Congenital Nephrotic syndrome)		(Congenital Nephrotic syndrome, lipoid nephrosis)

	{\|		{\|

Z8600021 at 22:54, 23 Ocak 2020

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	See also [[Genital_System_-_Abnormalities\|Genital System - Abnormalities]]		See also [[Genital_System_-_Abnormalities\|Genital System - Abnormalities]]

	==Nephrotic ~~syndrome~~==		==Nephrotic Syndrome==
	(Congenital Nephrotic syndrome)		(Congenital Nephrotic syndrome)

Z8600021 at 22:53, 23 Ocak 2020

2020-01-23T22:53:29Z

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	See also [[Genital_System_-_Abnormalities\|Genital System - Abnormalities]]		See also [[Genital_System_-_Abnormalities\|Genital System - Abnormalities]]

			==Nephrotic syndrome==
			(Congenital Nephrotic syndrome)

			{\|
			\|-bgcolor="FEF9E7"
			\| {{ICD11weblink}}1184209951 '''GB41''' Nephrotic syndrome] ''A condition characterised by severe proteinuria, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in hypoalbuminaemia and generalised oedema. There is also usually hyperlipidaemia. Other manifestations of glomerular disease may be present. There are many possible causes and renal histological appearances. Possible complications include vascular thrombosis, infections, malnutrition and renal failure.''
			\|}

			Genetic Mutations include:
			* '''nephrin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS1 gene location {{Chr19}}q13.12, mutations in this gene are associated with Congenital Nephrotic Syndrome (Nephrotic syndrome). (More? {{renal abnormalities}})

			* '''podocin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS2 gene location {{Chr1}}q25.2, mutations in this gene are associated with Congenital Nephrotic Syndrome (Nephrotic syndrome). (More? {{renal abnormalities}})

	==References==		==References==
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	* '''CAKUT''' - congenital anomalies of the kidneys and urinary tract.		* '''CAKUT''' - congenital anomalies of the kidneys and urinary tract.

	* '''Congenital Nephrotic Syndrome''' - (CNS) rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth. Most cases are caused by genetic abnormalities in the components of the glomerular filtration barrier, especially nephrin and podocin.		* '''Congenital Nephrotic Syndrome''' - (CNS, Nephrotic syndrome) rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth. Most cases are caused by genetic abnormalities in the components of the glomerular filtration barrier, especially nephrin and podocin.

	* '''cystic dysplasia''' - term used in renal dysplasia if cysts are present.		* '''cystic dysplasia''' - term used in renal dysplasia if cysts are present.
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	* '''nephrin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS1 gene location {{Chr19}}q13.12.		* '''nephrin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS1 gene location {{Chr19}}q13.12.

			* '''Nephrotic Syndrome''' - (Congenital Nephrotic syndrome, CNS) rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth. Most cases are caused by genetic abnormalities in the components of the glomerular filtration barrier, especially nephrin and podocin.

	* '''podocin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS2 gene location {{Chr1}}q25.2.		* '''podocin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS2 gene location {{Chr1}}q25.2.

Z8600021 at 22:44, 23 Ocak 2020

2020-01-23T22:44:14Z

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	* '''unilateral renal agenesis''' - (URA) failure of a single kidney development, often asymptomatic if not detected by prenatal screening.		* '''unilateral renal agenesis''' - (URA) failure of a single kidney development, often asymptomatic if not detected by prenatal screening.

	{{Renal ~~Terms~~}}		{{Renal terms}}

Z8600021 at 22:41, 23 Ocak 2020

2020-01-23T22:41:45Z

← Older revision		Revision as of 09:41, 24 Ocak 2020
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	* '''unilateral renal agenesis''' - (URA) failure of a single kidney development, often asymptomatic if not detected by prenatal screening.		* '''unilateral renal agenesis''' - (URA) failure of a single kidney development, often asymptomatic if not detected by prenatal screening.

			{{Renal Terms}}

Z8600021 at 22:37, 23 Ocak 2020

2020-01-23T22:37:29Z

← Older revision		Revision as of 09:37, 24 Ocak 2020
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	* '''CAKUT''' - congenital anomalies of the kidneys and urinary tract.		* '''CAKUT''' - congenital anomalies of the kidneys and urinary tract.

			* '''Congenital Nephrotic Syndrome''' - (CNS) rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth. Most cases are caused by genetic abnormalities in the components of the glomerular filtration barrier, especially nephrin and podocin.

	* '''cystic dysplasia''' - term used in renal dysplasia if cysts are present.		* '''cystic dysplasia''' - term used in renal dysplasia if cysts are present.

	* '''Meyer-Weigert Rule''' - clinical term for the arrangement of the ureter in a completely duplicated renal system, the ureter from the upper renal pole enters the bladder more medially and caudally than the ureter from the lower renal pole.		* '''Meyer-Weigert Rule''' - clinical term for the arrangement of the ureter in a completely duplicated renal system, the ureter from the upper renal pole enters the bladder more medially and caudally than the ureter from the lower renal pole.

			* '''nephrin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS1 gene location {{Chr19}}q13.12.

			* '''podocin''' - protein of the slit diaphragm of renal filtration barrier, located at the cell surface in the area between two podocytes. NPHS2 gene location {{Chr1}}q25.2.

	* '''posterior urethral valve''' - (congenital obstructing posterior urethral membrane) a common male renal abnormality (~1 in 10,000-25,000 live births) classified into 3 types. Membrane from mesonephric (Wolffian) duct origin forms of a thick, valve-like structure.		* '''posterior urethral valve''' - (congenital obstructing posterior urethral membrane) a common male renal abnormality (~1 in 10,000-25,000 live births) classified into 3 types. Membrane from mesonephric (Wolffian) duct origin forms of a thick, valve-like structure.

← Older revision		Revision as of 20:00, 11 Mayıs 2020
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}

	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Abnormal+Renal+Development ''Abnormal Renal Development''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Renal+Fusion ''Renal Fusion''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Horseshoe+Kidney ''Horseshoe Kidney''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Polycystic+Kidney+Disease ''Polycystic Kidney Disease''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital+Nephrotic+Syndrome\|''Congenital Nephrotic Syndrome'']]		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Abnormal+Renal+Development ''Abnormal Renal Development''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Renal+Fusion ''Renal Fusion''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Horseshoe+Kidney ''Horseshoe Kidney''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Polycystic+Kidney+Disease ''Polycystic Kidney Disease''] \| [http://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital+Nephrotic+Syndrome\|''Congenital Nephrotic Syndrome'']]
			[http://www.ncbi.nlm.nih.gov/pubmed/?term=Triad+Syndrome ''Triad Syndrome''] \|
	\|}		\|}
	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"