41. Birth Defects - Urinary System renal agenesis means that one or both kidneys are missing. renal agenesis anddysgenesis (malformation of the kidney) occurs in around one in 1500 births in http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Birth_defects_of_

42. 47,XXY With Associated Bilateral Renal Agenesis This article reports a case of bilateral renal agenesis in a fetus with 47,XXY . Bilateral renal agenesis has been suggested to be multifactorial5–8 and http://arpa.allenpress.com/arpaonline/?request=get-document&doi=10.1043/1543-216

43. Renal Agenesis In Extrahepatic Portal Vein Obstruction Desai Nutan, Mishra Peeyu Peerreviewed open access biomedical speciality periodical from India coveringvarious aspects of child health. http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2004;volume=71

44. Renal Agenesis In Extrahepatic Portal Vein Obstruction,Desai Nutan, Mishra Peeyu Indian Journal of Pediatrics is an open access http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2004;volume=71

45. Sociedad Iberoamericana De Urologia Pediatrica - Casos Clínicos Monoamniotic Twin Discordant for Bilateral renal agenesis with Normal Pulmonary Bilateral renal agenesis was f irst described by Potter in 1946. http://www.siupurol.com/siupurol_caso7.html

Volver Monoamniotic Twin Discordant for Bilateral Renal Agenesis with Normal Pulmonary Function MARCOS R. PEREZ-BRAYFIELD, MD, ANDREW J. KIRSCH, M AND EDWIN A. SMITH, MD EMORY UNIVERSITY SCHOOL OF MEDICINE ATLANTA, GEORGIA KEY WORDS Monoamniotic Twin, Renal Agenesis, Pulmonary Function Bilateral renal agenesis was f irst described by Potter in 1946.(1) It is found in approximately 1 of every 4000 births.(2) This condition is considered to be incompatible with life. Bilateral renal agenesis is a ssociated with o ligohydramnios, Potter facial changes that include wide set eyes, low set ears and reclining chin, limb deformities and pulmonary hypoplasia. We described a monoamniotic twin born discordant for bilateral renal agenesis with normal pulmonary function. CASE REPORT: A healthy 22 y/o woman G4P3 with twin pregnancy had a prenatal ultrasound showing no abnormalities. She underwent an uncomplicated delivery at 35 weeks of gestation revealing normal appearing boys with apgar scores for both boys of 10/10. The mother and both boys were discharged within 24 hr. Of note, one of the boys did not void before discharge. Our patient returned 24 hrs later with no voiding since birth. The p atient was doing well with no respiratory difficulties and normal physical exam

46. University Of Minnesota Radiology Grand Rounds Disease Varieties Errors of Renal Number renal agenesis Renal Hypoplasia renal agenesis Diagnosed more often in females from associated anomalies http://www.tc.umn.edu/~hitex001/pedsimage/goodman.html

Errors of Renal Duplication and Omission Mark Goodman, M.D. JANUARY 3, 1996 Disease Varieties Errors of Renal Number Renal Agenesis Renal Hypoplasia Supernumerary Kidney Errors of Ureteral Number Bifid Pelvis Partial Duplication Complete Duplication Triplication Errors of Renal Number Renal Agenesis Renal Hypoplasia Supernumerary Kidney Renal Agenesis 1:500 to 1:1500 births Failure of metanephric bud formation Involution of MCDK Association with other GU anomalies Renal Agenesis Diagnosed more often in females from associated anomalies Dx: 40% < 1 year, 75% < 5 years Renal Agenesis Radiographic Findings Absent renal shadow ectopic kidney vs. surgery vs. agenesis Bowel loops in expected renal position best by tomography Enlarged contralateral kidney Renal Agenesis Ultrasound Findings Neonatal/Prenatal adrenal flattened may be mistaken for normal kidney Absent renal unit ectopic kidney vs. surgery vs. agenesis May see associated GU anomalies Renal Agenesis Urographic/Angiographic findings Absent function (look in pelvis) Absent renal artery Absent ureter and trigone Contralateral enlargement ~ 15% with hypoplastic ureter Renal Agenesis Associated Anomalies 2 X increased contralateral kidney abnormal Uterine Anomalies (unicornuate, bicornuate)

47. EMedicine - Potter Syndrome : Article Excerpt By: Vellore K Sairam, MBBS Homozygous nullmutants for WT-1 have complete renal agenesis. Mutation ofthe ld gene leads to limb deformity with renal agenesis. http://www.emedicine.com/ped/byname/potter-syndrome.htm

(advertisement) Excerpt from Potter Syndrome Synonyms, Key Words, and Related Terms: Potter’s syndrome, Potter disease, Potter’s disease, Potter facies, Potter’s facies, Potter sequence, oligohydramnios secondary to renal disease, renal agenesis, bilateral renal agenesis, infantile polycystic kidney disease, cystic kidney disease, posterior urethral valves, early rupture of membranes, oligohydramnios Please click here to view the full topic text: Potter Syndrome Background: Potter syndrome, which causes a typical physical appearance, is the result of oligohydramnios secondary to renal diseases such as bilateral renal agenesis. Other causes are obstructive uropathy, autosomal recessive polycystic kidney disease, medullary dysplastic kidney, and renal hypoplasia. The latter causes results in less severe forms of deformation that are usually referred to as the Potter sequence. Pathophysiology: The fetus continuously swallows amniotic fluid, which is reabsorbed by the gastrointestinal tract and then reintroduced into the amniotic cavity by the kidneys. Oligohydramnios occurs if the volume of amniotic fluid is less than normal for the corresponding period of gestation. This may be due to decreased urine production secondary to bilateral renal agenesis, obstruction of the urinary tract, or, occasionally, prolonged rupture of membranes. The resulting oligohydramnios is the cause of the deformities observed in Potter syndrome. Genetics During nephrogenesis, the essential interaction between the ureteric bud and the metanephric mesenchyme is controlled by genes, transcription factors, and growth factors. For example, the L1M1 and PAX2 transcription factors are essential for the formation of the mesonephric duct, from which the ureteric bud develops. L1M1-deficient mice have complete renal agenesis. If the

48. EMedicine - Multicystic Renal Dysplasia : Article By WM Lane M Robson, MD including preauricular pits, branchial cleft fistulas or cysts, and dysplasiaor renal agenesis. Renal dysplasia is more common than renal agenesis. http://www.emedicine.com/ped/topic1493.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Nephrology Multicystic Renal Dysplasia Last Updated: February 14, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: multicystic dysplasia of the kidney, MCDK, multicystic kidney, multicystic renal dysplasia AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: WM Lane M Robson, MD , Chair of Paediatrics, Paediatrics, Tawam Hospital, United Arab Emirates WM Lane M Robson, MD, is a member of the following medical societies: American Academy of Pediatrics Editor(s): Laurence Finberg, MD , Clinical Professor, Department of Pediatrics, University of California at San Francisco and Stanford University; Robert Konop, PharmD , Director of Drug Programs and Utilization; Frederick J Kaskel, MD, PhD , Professor, Department of Pediatrics, Division of Pediatric Nephrology, Montefiore Medical Center and Albert Einstein School of Medicine;

49. Entrez PubMed Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotypein mice. Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

50. Entrez PubMed five also had unilateral renal agenesis (p = 2.1 x 10(7)). In 9200 autopsies,seven cases of unilateral renal agenesis were found; two (29 per cent) http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8

51. THE MERCK MANUAL, Sec. 19, Ch. 261, Congenital Anomalies Agenesis Bilateral renal agenesis (absence of both kidneysPotter s syndrome) Unilateral renal agenesis is not uncommon and usually is accompanied by http://www.merck.com/mrkshared/mmanual/section19/chapter261/261j.jsp

52. Renal Agenesis renal agenesis. Hereditary renal adysplasia. HRA. Urogenital adysplasia, hereditary Bilateral renal agenesis in a 26week-old fetus Bilateral renal http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=250

53. Article : Antenatal Ultrasound Diagnosis Of Potter's Syndrome ; Author : J Dayal By definition, bilateral renal agenesis is absence of both kidneys associated Potter s Syndrome is bilateral renal agenesis exemplified by pulmonary http://www.ijri.org/articles/archives/2003-13-1/obstetric_81.htm

Obstetric Antenatal Ultrasound Diagnosis of Potter's Syndrome J Dayal, E Maheshwari, PS Ghai, S Bhatotia Ind J Radiol Imag 2003 13:1:81-83 Key Words: Potter, Renal Agenesis Introduction Potter's Syndrome is a rare disorder characterised by bilateral renal agenesis, pulmonary hypoplasia, limb deformities and typical facies. Our recent experience with a case of bilateral renal agenesis diagnosed antenatally has prompted us to report this rare case. Case Report A twenty-five-year old primigravida female was referred for a second trimester ultrasonogram as a part of routine antenatal check up. Ultrasonography was done using Synergy Diasonics equipment, with 3.5 MHz and 6.5 MHz curvilinear transducers. Fig. 2: Color flow mapping showing absence of bilateral renal arteries signal[ao: aorta, bif: aortic bifurcation] Fig. 3: Antenatal longitudinal scan showing absence of demonstrable urinary bladder The scan (Fig. 1) revealed a live foetus with breech presentation, dolicocephalic skull and gestational age corresponding to 27 weeks according to bi-parietal diameter and femur length. There was complete absence of amniotic fluid (Fig. 4) with non-visualisation of both kidneys and urinary bladder (Fig. 3), hypoplastic thoracic cavity and a normal placental implantation. Adrenal glands were seen lying adjacent to the spine occupying the renal fossa. Color flow mapping (Fig. 2) revealed lack of bilateral renal arteries.

54. Malignancy In An Intra-abdominal Testis With Renal Agenesis (a Case Report). Cha J Postgrad Med, Online version this peerreviewed periodical, a publication ofthe Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1983;volume=29;issue=4

55. Malignancy In An Intra-abdominal Testis With Renal Agenesis (a Case Report).,Cha Indexed peerreviewed biomedical periodical of Staff Society of Seth GS MedicalCollege and KEM Hospital, India, with free access to full-text since 1990. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1983;volume=29;issue=4

56. BabyCenter | Community: BBS - Amniotic Fluid Disorders | Renal Agenesis And AFI tell what AFI levels most women have who have renal agenesis. Everything Iread just says with renal agenesis there is little or no fluid. http://bbs.babycenter.com/board/pregnancy/pregcomplications/1202046/thread/23431

var ACM, oPopup, oDefPopup, offsetTop=10, offsetLeft=10; You seem to have disabled JavaScript. To take full advantage of our site and functionality, we recommend you enable Javascript. How? document.write(''); Preconception Pregnancy Baby Toddler ... Amniotic fluid disorders "Renal Agenesis and AFI Levels" Posts: Last Post: Sep 2, 2005, 1:33 PM (PDT) JOIN IN: See all Boards Create a new thread Add a message WATCHES: My watches Start watching this thread HOW TO: Getting started Community Guidelines Help victims of Hurricane Katrina Wish you could do something? Click here to donate to the American Red Cross. Back to Amniotic fluid disorders Messages First Last Author: Aug 4, 2005 , 3:46 AM (PDT) Hello Everyone, I'm 28 weeks and have had low fluid levels since week 15. I've been diagnosed with Bilateral Renal Agenesis (No Kidneys) - just finally got this dianosis last week! Yes it took that long for them to figure it out. I'm not giving up this fight for my baby until there truly is no hope. I was wondering if there is anyone else out there who has also had or has this diagnosis and what your AFI levels were.

57. ULTRASOUND Messages For May, 2001: Renal Agenesis And Noncystic Renal Dysplasia renal agenesis and Noncystic Renal Dysplasia or are the findings just partof the continuum stopping short of bilateral renal agenesis ? http://forums.obgyn.net/ultrasound/ULTRASOUND.0105/0068.html

-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing Renal Agenesis and Noncystic Renal Dysplasia From: Rich Dempsey RDMS/RVT ridem@msn.com Fri May 18 21:18:06 2001 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: DR.JOE ANTONY: "Thanks The-Hung Bui" Previous message: Allen Worrall: "Risk of 2nd trimester amniocentesis" Next in thread: Dr Fazeel uz Zaman: "Re: Renal Agenesis and Noncystic Renal Dysplasia" Maybe reply: Dr Fazeel uz Zaman: "Re: Renal Agenesis and Noncystic Renal Dysplasia" Maybe reply: udaya kumar: "Re: Renal Agenesis and Noncystic Renal Dysplasia" Scanned a 7 day old female infant,(born at 38 weeks prematurity) with a creatinine of 3.0, and metabolic acidosis (although the infant apparently has a malrotated gut and vomiting), and abmormal blood K levels. Lasix injection resulted in 70 cc of urine. They infant has lost 20% of its birthweight, presumably due to dehydration. I was unable to locate a right kidney, after an extensive search from the right adrenal gland down the psoas to the pelvis. The LEFT kidney was in the expected location, but measured only 2.5 cm, which is 2 SD below the mean of 4.5 cm for a newborn. Scanning (last resort) through the infant's back the left kidney, psoas, spine, and right psoas were vizualized. I felt that fused cross ectopia, etc was unlikely, although a nuclear renogram is the next planned test. There was no hydronephrosis, cortical or medullary cysts. The solitary kidney appeared mildly echogenic; there were hypoechoic areas within the renal cortex/medulla, however they were NOT arranged like neonatal renal pryramids. I don't believe that they were cysts though. MOST unfortunately I was unable to do Color Doppler for renal vein thrombosis,presence of a RRenArt, etc.

58. ULTRASOUND Messages For May, 2001: Re: Renal Agenesis And Noncystic Renal Dyspla part of the continuum stopping short of bilateral renal agenesis ? (Solitarydysplastic kidney). Reply ridem@msn.com http://forums.obgyn.net/ultrasound/ULTRASOUND.0105/0073.html

-VISIT OUR OTHER FORUMS- OB-GYN-L Ultrasound Ultrasound History Physicians-in-Training Tech Talk OBSTET-L (portuguese) OBGIN-L (spanish) Nursing Re: Renal Agenesis and Noncystic Renal Dysplasia From: udaya kumar udaya@md2.vsnl.net.in Sun May 20 07:13:47 2001 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: James S. Smeltzer, MD: "Re: Risk of 2nd trimester amniocentesis" Previous message: Allen Worrall: "Re: Risk of 2nd trimester amniocentesis" Maybe in reply to: Rich Dempsey RDMS/RVT : "Renal Agenesis and Noncystic Renal Dysplasia" To me it looks likes solitary dysplastic kidney. ..Udayakumar Rich Dempsey RDMS/RVT wrote: ridem@msn.com Next message: James S. Smeltzer, MD: "Re: Risk of 2nd trimester amniocentesis" Previous message: Allen Worrall: "Re: Risk of 2nd trimester amniocentesis" Maybe in reply to: Rich Dempsey RDMS/RVT : "Renal Agenesis and Noncystic Renal Dysplasia" recommended search... OBGYN.net only forums endozone.org Web use when must restrict search to only the ultrasound forum... Enter search keywords: Returns per screen: Require all keywords: Return to Mail a New Message to the Forum: ultrasound@obgyn.net

59. Medical References: Genital And Urinary Tract Defects Some of the most common urinary tract defects include renal agenesis, Babies with bilateral renal agenesis often have birth defects affecting other http://www.marchofdimes.com/professionals/681_1215.asp

View All Chapters Find Your Local Chapter September 9, 2005 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets Genital and Urinary Tract Defects There are many birth defects that involve the genitals and urinary tract. These defects can affect the kidneys (organs that filter wastes from the blood and form urine), ureters (tubes leading from the kidneys to the bladder), bladder (sac that holds urine), urethra (the tube that drains urine out of the body from the bladder), and the male and female genitals. For boys, the genitals include the penis, prostate gland and testes. For girls, the genitals include the vagina, uterus, fallopian tubes and ovaries. Abnormalities of the genitals and urinary tract are among the most common birth defects, affecting as many as 1 in 10 babies. Some of these abnormalities are minor problems that may cause no symptoms (such as having two ureters leading from one kidney to the bladder), and go undiagnosed unless the child has an X-ray, ultrasound examination or surgery for a related or unrelated problem. Other abnormalities can cause problems such as urinary tract infections, blockages, pain, and kidney damage or failure. What is the cause of genital and urinary tract defects?

60. MRC HGU - FITZPATRICK LAB Bilateral renal agenesis (BRA) or complete absence of the kidneys is a commonlethal 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.

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