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         Renal Agenesis:     more detail
  1. Renal agenesis: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Maria, PhD Basile, 2005
  2. A case of renal agenesis and hypertension by Holly Lynne Zapf, 1997

61. NEJM -- Familial Nature Of Congenital Absence And Severe Dysgenesis Of Both Kidn
Seventyone parents and 40 siblings of 41 index patients with bilateral renal agenesis,bilateral severe dysgenesis, or agenesis of one kidney and dysgenesis
http://content.nejm.org/cgi/content/abstract/310/21/1341
HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Volume 310:1341-1345 May 24, 1984 Number 21 Next Familial nature of congenital absence and severe dysgenesis of both kidneys
AM Roodhooft, JC Birnholz, and LB Holmes Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Roodhooft, A. M. Holmes, L. B. Medline Citation Abstract Seventy-one parents and 40 siblings of 41 index patients with bilateral renal agenesis, bilateral severe dysgenesis, or agenesis of one kidney and dysgenesis of the other were evaluated by gray-scale ultrasonography for genitourinary malformations. Nine per cent (10 of 111) had asymptomatic renal malformations, most often unilateral renal agenesis (4.5 per centa frequency that was significantly higher than the frequency of 0.3 per cent among 682 adults [P less than 0.004]). We recommend ultrasonographic screening for parents and siblings of infants born with agenesis or dysgenesis of both kidneys or with agenesis of one kidney and dysgenesis of the other, since renal malformations may have medical implications even for asymptomatic patients.
This article has been cited by other articles:
  • Kamba, T., Higashi, S., Kamoto, T., Shisa, H., Yamada, Y., Ogawa, O., Hiai, H. (2001). Failure of Ureteric Bud Invasion : A New Model of Renal Agenesis in Mice.

62. Korean Standard Classification Of Diseases
Q60 renal agenesis and other reduction defects of kidney Inclusion congenitalatrophy of kidney infantile atrophy of kidney congenital absence of kidney Q60
http://www.nso.go.kr/eng/standards/edis/q60.htm
Q60 Renal agenesis and other reduction defects of kidney Inclusion £ºcongenital atrophy of kidney infantile atrophy of kidney congenital absence of kidney Q60.0 Renal agenesis, unilateral Q60.1 Renal agenesis, bilateral Q60.2 Renal agenesis, unspecified Q60.3 Renal hypoplasia, unilateral Q60.4 Renal hypoplasia, bilateral Q60.5 Renal hypoplasia, unspecified Q60.6 Potter's syndrome

63. Abnormalities
Image URL renal agenesis, Image URL renal agenesis, Image URL renal agenesis, ImageURL renal agenesis, Image URL Unilateral pyelonephritis and ectopic ureter,
http://www.brisbio.ac.uk/ROADS/subject-listing/abnormalities.html
A collection of medical, dental and veterinary images for use in teaching. Home About the Archive FAQ Terms and Conditions ... Help
Abnormalities
Accessory lung Congenital bladder neck obstruction Congenital cystic kidney Congenital fusion of vertebrae Congenital mesoblastic nephroma Congenital polycystic disease Congenital polycystic disease Congenital polycystic disease Congenital renal dysplasia Congenital renal dysplasia Dysgenetic dysplastic kidney Facial asymmetry due to a hemihypertrophy Fordyce's spots Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Juvenile nephropathy Monstrosities Normal Serres rests Renal agenesis Renal agenesis Renal agenesis Renal agenesis Unilateral pyelonephritis and ectopic ureter Wedge vertebra

64. UNSW Kidney And Reproduction 2
renal agenesis. Medline 1. renal agenesis in mice homozygous for a genetrap mutation in the gene encoding heparan sulfate 2sulfotransferase.
http://anatomy.med.unsw.edu.au/cbl/embryo/Notes/urogen2.htm
UNSW Embryology
DEVELOPMENT OF THE KIDNEY AND REPRODUCTION SYSTEMS
Embryology Home Page Page WWW Page Links Abnormalities Australian Statistics 1981-1992 Self Assessment Questions OMIM Database ... Next Page Kidney Renal Agenesis Polycystic Kidneys Multicystic Kidney Urinary Tract Obstruction ... Wilms Tumour Reproductive CRYPTORCHIDISM XX MALE SYNDROME SEX REVERSAL GONADAL DYSGENESIS, XY FEMALE AUTOSOMAL ... WWW Links
DEVELOPMENTAL ABNORMALITIES
Note that upper G.I.T. obstruction is associated with POLYHYDRAMNIOS whereas failure of fetal micturition is associated with OLIGOHYDRAMNIOS with consequent firm uterine moulding on the fetus, leading to facial, locomotor and palatal deformities. The "figures" referred to below are on posters in the practical classroom.
Kidney Abnormalities
RENAL AGENESIS
In the complete form the child is not viable and dies within a few days of birth.

65. UNSW Embryology-OMIM UROGENITAL ADYSPLASIA
OMIM database entry on urogenital adysplasia, hereditary.Category Health Conditions and Diseases renal agenesis...... HEREDITARY RENAL ADYSPLASIA; HRA renal agenesis BILATERAL renal agenesis; BRA.TABLE OF CONTENTS. Thus, Potter facies is not pathognomonic of renal agenesis.
http://anatomy.med.unsw.edu.au/CBL/Embryo/OMIMfind/kidney/OMIM-191830.htm
UNSW Embryology
DEVELOPMENT OF THE URINARY SYSTEM Embryology Home Page
UROGENITAL ADYSPLASIA
Select Entry from OMIM
Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Kidney Notes List of OMIM search results
*191830 UROGENITAL ADYSPLASIA, HEREDITARY
Alternative titles; symbols
HEREDITARY RENAL ADYSPLASIA; HRA
RENAL AGENESIS
BILATERAL RENAL AGENESIS; BRA
TABLE OF CONTENTS
Database Links
Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.
TEXT
There are reports of bilateral renal agenesis in sibs ( Madisson, 1934

66. Renal Agenesis
Familial bilateral renal agenesis and hereditary renal adysplasia. PotterEL. Facial characteristics of infants with bilateral renal agenesis.
http://ibis-birthdefects.org/start/ukrainian/ukidagen.htm
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Potter Ïîºäíàííÿ äâîá³÷íî¿ àãåíå糿 íèðîê ³ç ³íøèìè ñïåöèô³÷íèìè àíîìàë³ÿìè íàçèâàþòü ñèíäðîìîì Potter. Äî öèõ àíîìàë³é â³äíîñÿòüñÿ: Holzgreve ñèíäðîì Áðàíõ³î-îòî-ðåíàëüíèé (BÎR) "Ñèíäðîì êîòÿ÷îãî îêà" (inv dup(22)(q11) Urogenital Adysplasia, Hereditary
  • Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM. Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilk 1973;115:111-129. McGillivray BC, Bassett AS, Langlois S, Pantzar T, Wood S. Familial 5q11.2-q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. Am J Med Genet 1990;35:10-13. Potter EL. Facial characteristics of infants with bilateral renal agenesis. Am J Obstet Gynec 1946;51:885-888. Schmidt W, Schroeder TM, Buchinger G, Kubli F. Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases. Clin Genet 1982;22:105-127. Scott RJ, Goodburn SF. Potter's syndrome in the second trimester: prenatal screening and pathological findings in 60 cases of oligohydramnios sequence. Prenatal Diag 1995;15:519-525.
  • Øóêàòè â IBIS
    FreeFind
    ²íôîðìàö³ÿ íà ö³é ñòîð³íö³ º âèêëþ÷íî òî÷êîþ çîðó ¿¿ àâòîðà, ÿêó íå îáîâ’ÿçêîâî ïîä³ëÿþòü Óêðà¿íñüêî-Àìåðèêàíñüêà Ïðîãðàìà çàïîá³ãàííÿ âðîäæåíèì âàäàì ðîçâèòêó, Àìåðèêàíñüêà Ôóíäàö³ÿ “March of Dimes” ÷è áóäü-ÿêà ³íøà ïîä³áíà îðãàí³çàö³ÿ. Íàø ñàéò ïðîïîíóº ³íôîðìàö³þ ïåðåâàæíî ç ìåòîþ ðîçïîâñþäæåííÿ ìåäè÷íèõ çíàíü. Íå âèêîðèñòîâóéòå éîãî â ÿêîñò³ ºäèíîãî äæåðåëà ìåäè÷íî¿ ³íôîðìàö³¿, àáî ùîá ñàìîñò³éíî çì³íèòè ïðîöåñ ë³êóâàííÿ. Áóäü ëàñêà, ïðî÷èòàéòå ïîâíèé òåêñò

    67. Kallmann Syndrome
    Unilateral renal agenesis has been described in several patients with Kallmann syndrome Bardin et al. Ataxia Unilateral renal agenesis Micropenis
    http://ibis-birthdefects.org/start/kallmann.htm
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    Special Resources Kallmann Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals Kallmann Syndrome from OMIM Kallmann Syndrome 1 from OMIM Clinical Synopsis ... Anosmia ... Hypogonadotropic hypogonadism ... Olfactory lobe agenesis ... Mirror hand movements (bimanual synkinesia) ... Ataxia ... Unilateral renal agenesis Micropenis ... Cryptorchidism ... Testicular atrophy ... High - arched palate ... Gynecomastia ... Partial or complete anosmia in some heterozygous females ... Hypothalamic gonadotropin - releasing hormone ... Impaired FSH and LH secretion ... Leydig cell insensitivity to gonadotropin ... X - linked (Xp22.3) Reifenstein Syndrome from OMIM Androgen Insensitivity Partial ... The features of this form of male pseudohermaphroditism are hypospadias, hypogonadism, gynecomastia, normal XY karyotpye, and a pedigree pattern consistent with X - linked recessive inheritance ... No spermatozoa are found ... histologic features ... resemble those of the XXY Klinefelter syndrome. However, the presence of germ cells, the hypospadias, and the familial nature are distinguishing features ...

    68. Mioti: Medical Condition
    Condition renal agenesis. NORD renal agenesis, Bilateral. Information fromthe National Organization for Rare Disorders. General Topics. Clinical Trials.
    http://www.mioti.com/cat/condition/condition.asp?Cat=RenalAgenesis

    69. Directory :: Look.com
    renal agenesis (25) Other Categories. Personal Pages (12) See Also. Peoria RadiologySample sonograms, indicating bilateral renal agenesis or Potter's Syndrome.
    http://www.look.com/searchroute/directorysearch.asp?p=344023

    70. Untitled
    Translate this page Method An analysis was made upon 32 pregnancies of 15 patients eight nephrectomizedand seven with unilateral renal agenesis, six of the latter with
    http://www.infomedonline.com.ve/obstetricia/obs601art2.htm
    Riñón único y embarazo. Resultados maternos y fetales Drs. Marisol Fernández B, Gerardo E. Fernández, Rafael Molina Vílchez Departamento de Obstetricia y Ginecología, Hospital Chiquinquirá, Maracaibo RESUMEN Objetivo : Investigar los resultados materno-fetales en gestantes con riñón único.
    Método : Se analizaron 32 embarazos en 15 pacientes: ocho uninefrectomizadas y siete con agenesia renal unilateral, seis de estas últimas con malformaciones müllerianas asociadas. Se revisó la duración de la gestación, vía del parto, y complicaciones materno-fetales.
    Ambiente : Departamento de Obstetricia y Ginecología, Hospital Chiquinquirá. Maracaibo.
    Resultados : Como complicaciones maternas para el total de embarazos hubo: anemia (25%), infección urinaria (15,63%), hipertensión inducida por el embarazo (6,25%), hipertensión crónica (3,13%) y ruptura prematura de membranas (3,13%). El parto fue vaginal en 53,57% y cesárea en 46,43%. Las cesáreas correspondieron a pacientes con agenesia renal en 85,71%. Las indicaciones fueron obstétricas. Hubo 27 nacimientos viables (84,37%), cuatro abortos (12,5%) y un mortinato (3,13%). Al grupo con agenesia renal pertenecieron todos los neonatos pretérmino (7,41%) y dos tercios de los abortos.
    Conclusiones : La presencia de un riñón único, per se, no incrementa la morbimortalidad maternofetal. El incremento ocurre cuando la agenesia renal se asocia a anomalía mülleriana.

    71. Cryptophthalmos Syndrome (Fraser Syndrome)
    and depressed nasal bridge, malformed ears, syndactyly of fingers and toes, abnormalgenitalia, craniofacial skeletal defects, renal agenesis, and laryngeal
    http://www.kfshrc.edu.sa/annals/194/98-252.html
    Cryptophthalmos Syndrome (Fraser Syndrome) With Cardiac Findings In a Saudi Newborn Ali Aqeel, MD; Saleh Al-Alaiyan, MD, FRCPC Fraser syndrome (cryptophthalmos syndrome) is a rare autosomal recessive disorder. The most consistent features are cryptophthalmos, a broad and depressed nasal bridge, malformed ears, syndactyly of fingers and toes, abnormal genitalia, craniofacial skeletal defects, renal agenesis, and laryngeal stenosis. These anomalies were first documented by Fraser in 1962. We report the case of a full-term newborn who had multiple abnormalities consistent with cryptophthalmos syndrome. In addition, the newborn had a total anomalous pulmonary venous return (TAPVR), which is a new finding in patients with this syndrome. To the best of our knowledge, this is the first report of Fraser syndrome with cardiac lesion (TAPVR) in a Saudi infant. Case Report A 29-year-old Saudi woman, gravida 7 para 4, had a history of two abortions and three healthy children. She also had a history of a spontaneous vaginal delivery of a male infant with multiple malformations, including complete cryptophthalmos in both eyes, small malformed ears, syndactyly of all fingers, and cleft lip. The infant died 30 minutes after birth in a peripheral hospital, and thus, details were not available. The parents of this infant were second-degree cousins, and his cousin on the paternal side died immediately after birth with similar features. Ultrasound examination of the mother at 28 weeks' gestation demonstrated fetal ascites and unidentified urinary bladder and absent kidneys. At 33 weeks' gestation, ultrasound showed ascites, small left kidney, absent right kidney, thick-walled bladder, oligohydramnios, and increased echogenicity of the right lung. Fetal echocardiogram showed evidence of TAPVR and pericardial effusion. Screening for toxoplasmosis, rubella, syphilis, herpes simplex and cytomegalovirus was negative. Chromosomal study revealed normal male karyotype (46,XY). Pregnancy was induced at 39 weeks and the mother gave birth to a dysmorphic infant who

    72. Cme
    Failure of the ureteral bud to develop and meet the metanephric blastema will leadto ipsilateral renal agenesis or dysplasia; however, the seminal vesicle
    http://www.indianradiologist.com/cme8.htm
    CME article 8
    Dr. Rahul Sachdev, New Delhi
    Introduction
    Cysts of the seminal vesicles usually become apparent in the second to third decade during the period of greatest sexual or reproductive activity. Seminal vesicle cysts less than 5 cm may remain asymptomatic and are usually discovered incidentally as a palpable abdominal mass or on digital rectal examination as a palpable fluctuant mass arising from the superior aspect of the prostate gland. Clinical Features
    These cysts also may present with symptoms related to bladder irritation and obstruction. Commonly reported symptoms include abdominal, perineal, and pelvic pain; ejaculatory pain; dysuria; frequency; hematuria; urinary tract infections; and symptoms of epididymitis and prostatitis. Other reported symptoms include infertility, hemospermia, and, rarely, enuresis. Cysts of the seminal vesicles greater than 12 cm have been termed "giant" cysts and often are present with symptoms of

    73. IMGS 15th Conference Abstracts
    POSTER 78 FAILURE OF URETERIC BUD INVASION A NEW MODEL OF renal agenesisIN MICE. Bilateral renal agenesis is lethal within 2 days after birth.
    http://imgs.org/abstracts/2001abstracts/kamba.html
    The 15th International Mouse Genome Conference (2001)
    Table of Contents Complex Genetics Developmental Genetics Gene Annotation ... Verne Chapman Memorial Lecture POSTER 78 - FAILURE OF URETERIC BUD INVASION: A NEW MODEL OF RENAL AGENESIS IN MICE Dr Tomomi Kamba
    Kyoto University
    Yoshida-Konoe-cho, Sakyo-ku
    Kyoto 606-8501
    Japan Co-Authors: 1)Higashi S, 1)Kamoto T, 2)Shisa H, 3)Yamada Y, 1)Ogawa O, 3)Hiai H
    Institutions: 1)Department of Urology, Kyoto University Graduate School of Medicine 2) Saitma Cancer Institute, 3)Department of Pathology and Biology of Pathology and Biology of Diseases, Kyoto University Graduate School of Medicine Newest Abstracts Officers Chromosome Committees Bylaws ... Membership Base url http://imgs.org Last modified: Monday, February 11, 2002 Webmaster

    74. URO-GENITAL: CAS URETERO PELVIC JUNCTION
    renal agenesis URETEROPELVIC JUNCTION, ABNORMALITIES, renal agenesis,RENALHYPO-DYSPLASIA. RENAL HYPO DYSPLASIA URETERO-PELVIC
    http://www.med.univ-rennes1.fr/cerf/iconocerf/idx/U/URETERO_PELVIC_JUNCTION.html
  • ABNORMALITIES :
  • CALCULI :
  • DIURETICS :
  • HYDRONEPHROSIS :
  • INTERMITTENT OBSTRUCTIVE UROPATHY :
  • KIDNEY :
  • MULTICYSTIC KIDNEY :
  • OBSTRUCTIVE UROPATHY :
  • PERCUTANEOUS NEPHROSTOMY :
  • 75. URO-GENITAL: CAS ABNORMALITIES
    UTERUS, ABNORMALITIES,UTERUS, DISEASES, UTERUS, RADIOGRAPHY. renal agenesis URETEROPELVIC JUNCTION, ABNORMALITIES, renal agenesis,RENAL HYPO-DYSPLASIA.
    http://www.med.univ-rennes1.fr/cerf/iconocerf/idx/U/ABNORMALITIES.html
  • ADRENAL GLANDS :
  • CALCULI :
  • DISEASES :
  • FIBROMA :
  • HEMORRHAGE :
  • HYDRONEPHROSIS :
  • HYPERTROPHY :
  • INFECTION :
  • KIDNEY :
  • MR STUDIES :
  • MULTICYSTIC KIDNEY :
  • 76. WebGuest - Open Directory Health Conditions And Diseases
    Sites Development Summary of a study titled renal agenesis and hypodysplasiain ret-k- mutant mice result from defects in ureteric bud development .
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Urologica

    77. Member Sign In
    Tarry et al 13 defined MRKH syndrome as having only müllerian duct abnormalities,resulting in vaginal, uterine, and/or renal agenesis.
    http://www.medscape.com/viewarticle/410500_3
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    78. MRC HGU - FITZPATRICK LAB
    Bilateral renal agenesis Bilateral renal agenesis (BRA) or complete absence ofthe kidneys is a common lethal malformation occurring in 1 in 5000 births.
    http://www.hgu.mrc.ac.uk/Research/Cellgen/davidfp/page4.htm
    FitzPatrick Lab Bilateral Renal Agenesis Bilateral renal agenesis (BRA) or complete absence of the kidneys is a common lethal malformation occurring in 1 in 5000 births. It is twice as common in males as females. BRA appears to have a predominantly genetic aetiology and many cases represent the most severe manifestation of an autosomal dominant condition with incomplete penetrance and variable expressivity. We are assembling a panel of DNA samples from 50 Scottish infants who died as a result of BRA. These samples will be used to screen for mutations in candidate genes that will be chosen using strict criteria. Identification of the underlying genetic defects in these families would considerably help genetic counselling.

    79. SIRENOMELIA - A MERMAID
    1 Severe oligohydramnios or absent liquor is commonly associated with life threateningcongenital malformations like renal agenesis in 14000 livebirths.
    http://www.bhj.org/journal/1997/3901_jan/case_206.htm

    80. Chapter 6 Self Test Questions
    A. diaphragmatic hernia B. Unilateral renal agenesis C. esophageal atresia D. Urethralobstruction E. Bilateral renal agenesis 3. A fullterm newborn suffers
    http://cna.uc.edu/embryology/chapter6/selftest/testq.htm
    Chapter 6: Embryonic Folding and Development of the Lungs 1. Ultrasonography reveals that abdominal organs have eventrated into the left pleural cavity of a male fetus by 15 weeks of development. This condition resulted from incomplete development of which of the following structures? A. Septum transversum
    B. Diaphragmatic crura
    C. Pleuropericardial fold
    D. Fibrous pericardium
    E. Pleuroperitoneal membrane 2. An excess of amniotic fluid within the amniotic sac (polyhydramnios) of a 20 week-old fetus is a cause for concern since this condition may indicate anencephaly. Ultrasound analysis of this fetus, however, reveals that the cranial neuropore closed normally. Which of the following conditions is most likely to explain the observed polyhydramnios? A. diaphragmatic hernia
    B. Unilateral renal agenesis
    C. esophageal atresia
    D. Urethral obstruction
    E. Bilateral renal agenesis
    3. A full-term newborn suffers from respiratory failure but MRI reveals lungs of normal size and structure. Which of the following is a likley cause of the newborn's condition? A. pulmonary agenesis

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