Renal Agenesis, Bilateral

Renal Agenesis, Bilateral

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Renal Agenesis, Bilateral is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Kidney Agenesis
  • Renal Agenesis

Disorder Subdivisions

  • None

General Discussion

Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregnant woman. Normally, the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby.



This disorder is more common in infants born of a parent who has a kidney malformation, particularly the absence of one kidney (unilateral renal agenesis). Studies have proven that unilateral renal agenesis and bilateral renal agenesis are genetically related.

Symptoms

Bilateral renal agenesis is characterized by the absence of kidneys and of urine in a baby. The face usually consists of wide-set eyes; a "parrot beak" nose; a receding chin, and large low set ears deficient in cartilage. Other symptoms may include excess and dehydrated skin, a prominent fold at the corner of each eye, the facial expression of an older infant, and deformities of the hands and feet.



Premature labor, breech delivery and a disproportionately low birthweight are often associated with bilateral renal agenesis. The baby may also have multiple malformations including in females the absence of a uterus and upper vagina, or in males an absence of seminal vesicles and spermatic duct. Gastro-intestinal malformations such as the absence of a rectum, esophagus and duodenum may also occur. Symptoms may further include the presence of only a single umbilical artery, and major deformities of the lower part of the body and the lower limbs.

Causes

Bilateral renal agenesis is an autosomal dominant genetic disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.



Bilateral renal agenesis tends to occur when at least one parent has a kidney malformation or the absence of a kidney (unilateral kidney agenesis).

Affected Populations

Bilateral renal agenesis is found in male infants more frequently than females. It tends to occur in the children of parents having kidney abnormalities. It is a very rare disorder.

Standard Therapies

Treatment of bilateral renal agenesis is symptomatic and supportive.

Investigational Therapies

Research into the cause of renal agenesis is ongoing, with the hope of identifying the gene that causes this birth defect.



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Welling LW, Grantham JJ, Cystic and developmental diseases of the kidney. In: Brenner BM, Rector Jr, FC, eds. The Kidney. 4th ed. Philadelphia, Pa: W.B. Saunders Company; 1991:1657-94.



Jones KL, Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders Company; 1997:632-33.



JOURNAL ARTICLES

Latini JM, et al., Prenatal failure to visualize kidneys: a spectrum of disease. Urology. 1998;52:306-11.



Georgieff MK, et al., Liver and brain iron deficiency in newborn infants with bilateral renal agenesis (Potter's syndrome). Pediatr Pathol Lab Med. 1996;16:50919.



Sepulveda W, et al., Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios. Am J Obstet Gynecol. 1995;173:1788-92.



Kuller JA, et al., Prenatal diagnosis of renal agenesis in a twin gestation. Prenat Diagn. 1994;14:1090-92.



Newbould MJ, et al., Oligohydramnios sequence: the spectrum of renal malformations. Br J Obstet Gynaecol. 1994;101:598-604.

Resources

American Association of Kidney Patients

2701 North Rocky Point Drive, Suite 150

Tampa, FL 33607

USA

Tel: (813)636-8100

Fax: (813)636-8122

Tel: (800)749-2257

Email: info@aakp.org

Internet: http://www.aakp.org



American Kidney Fund, Inc.

11921 Rockville Pike

Suite 300

Rockville, MD 20852

USA

Tel: (800)638-8299

Email: helpline@kidneyfund.org

Internet: http://www.kidneyfund.org



National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010

Email: info@kidney.org

Internet: http://www.kidney.org



Urology Care Foundation

1000 Corporate Blvd

Linthicum, MD 21090

USA

Tel: (410)689-3700

Fax: (410)689-3896

Tel: (800)828-7866

Email: Info@UrologyCareFoundation.org

Internet: http://www.urologyhealth.org/



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane

Orlando, FL 32814

USA

Tel: (407)895-0802

Email: staff@birthdefects.org

Internet: http://www.birthdefects.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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