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imperfect development; nondevelopment of a part (同)agenesia

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腎臓の

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/12 06:34:19」(JST)

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Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop.

It can be associated with RET or UPK3A.^[1]

Bilateral[edit]

Main article: Potter sequence

Bilateral renal agenesis is the uncommon and serious failure of both a fetus' kidneys to develop during gestation, and is one causative agent of Potter sequence. This absence of kidneys causes oligohydramnios, a deficiency of amniotic fluid in a pregnant woman, which can place extra pressure on the developing baby and cause further malformations. The condition is frequently, but not always the result of a genetic disorder, and is more common in infants born to one or more parents with a malformed or absent kidney. Males are more commonly affected and most infants that are born alive do not live beyond four hours.

Unilateral renal agenesis[edit]

This is much more common, but is not usually of any major health consequence, as long as the other kidney is healthy. It is associated with an increased incidence of mullerian duct abnormalities which are abnormalities of the development of the female reproductive tract and can be a cause of infertility. The odds of a person being born with this condition are roughly 1 in 750. Adults with unilateral renal agenesis have considerably higher chances of hypertension (high blood pressure). People with this condition are advised to approach contact sports with caution.

References[edit]

^ Online 'Mendelian Inheritance in Man' (OMIM) 191830

External links[edit]

00464 at CHORUS
Swiss embryology (from UL, UB, and UF) turinary/patholurinary02

UpToDate Contents

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1. 腎無形成の出生前診断 prenatal diagnosis of renal agenesis
2. 先天性腎尿路異常（CAKUT）の概要 overview of congenital anomalies of the kidney and urinary tract cakut
3. 腎発育不全 renal hypoplasia
4. 先天性子宮奇形の臨床症状および診断 clinical manifestations and diagnosis of congenital anomalies of the uterus
5. 巣状分節性糸球体硬化症の疫学、分類、および病因 epidemiology classification and pathogenesis of focal segmental glomerulosclerosis

English Journal

OHVIRA with a Twist: Obstructed Hemivagina Ipsilateral Renal Anomaly with Urogenital Sinus in 2 Patients.

Ma I1, Williamson A1, Rowe D1, Ritchey M1, Graziano K2.Author information 1Phoenix Children's Hospital, Phoenix, AZ.2Phoenix Children's Hospital, Phoenix, AZ. Electronic address: kgraziano@surgery4children.com.AbstractBACKGROUND: OHVIRA syndrome is a rare diagnosis involving the triad of obstructed hemivagina, uterine anomaly, and ipsilateral renal anomaly. OHVIRA syndrome can be associated with other anomalies due to abnormal embryologic development of the urogenital system.
Journal of pediatric and adolescent gynecology.J Pediatr Adolesc Gynecol.2014 Apr;27(2):104-6. doi: 10.1016/j.jpag.2013.06.015. Epub 2013 Sep 26.
BACKGROUND: OHVIRA syndrome is a rare diagnosis involving the triad of obstructed hemivagina, uterine anomaly, and ipsilateral renal anomaly. OHVIRA syndrome can be associated with other anomalies due to abnormal embryologic development of the urogenital system.CASES: A 14-year-old female with known
PMID 24075086

New tubular injury markers in children with a solitary functioning kidney.

Taranta-Janusz K1, Zalewska-Szajda B, Gościk E, Chojnowska S, Dmochowska M, Pszczółkowska M, Wasilewska A.Author information 1Department of Pediatrics and Nephrology, Medical University of Białystok, 15-274, Białystok, Waszyngtona 17, Poland, katarzyna.taranta@wp.pl.AbstractBACKGROUND: The present study aimed to assess whether the urinary profiles of the lysosomal exoglycosidases N‑acetyl‑β‑hexosaminidase (HEX) and its isoenzymes A (HEX A) and B (HEX B), α-fucosidase (FUC), β-galactosidase (GAL), α-mannosidase (MAN), and β- glucuronidase (GLU) are useful biomarkers of tubular dysfunction in children with a solitary functioning kidney (SFK).
Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2014 Mar 22. [Epub ahead of print]
BACKGROUND: The present study aimed to assess whether the urinary profiles of the lysosomal exoglycosidases N‑acetyl‑β‑hexosaminidase (HEX) and its isoenzymes A (HEX A) and B (HEX B), α-fucosidase (FUC), β-galactosidase (GAL), α-mannosidase (MAN), and β- glucuronidase (GLU) are useful bio
PMID 24651943

Contribution of the foetal uro-MRI in the prenatal diagnosis of uronephropathies.

Pico H1, Dabadie A2, Bourliere-Najean B2, Philip N3, Capelle M4, Aschero A2, Quarello E5, Guys JM6, Hery G6, Petit P2, Gorincour G2.Author information 1Service d'imagerie pédiatrique et prénatale, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France. Electronic address: hrmnpc@yahoo.fr.2Service d'imagerie pédiatrique et prénatale, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.3Département de génétique médicale, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.4Centre de diagnostic prénatal, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.5Service de gynécologie obstétrique, hôpital Saint-Joseph, 26, boulevard de Louvain, 13285 Marseille cedex 08, France.6Service de chirurgie infantile, hôpital de la Timone, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.AbstractPURPOSE: To study the complementary diagnostic value and role in the perinatal management of foetal MRI in the prenatal diagnosis of abnormalities of the urinary tract.
Diagnostic and interventional imaging.Diagn Interv Imaging.2014 Mar 14. pii: S2211-5684(14)00039-4. doi: 10.1016/j.diii.2014.02.011. [Epub ahead of print]
PURPOSE: To study the complementary diagnostic value and role in the perinatal management of foetal MRI in the prenatal diagnosis of abnormalities of the urinary tract.PATIENTS AND METHODS: Retrospective monocentric study from November 2002 to June 2011 of foetuses benefiting from an MRI after ultra
PMID 24637205