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Renal Agenesis, Bilateral

Synonyms of Renal Agenesis, Bilateral

  • Kidney Agenesis
  • Renal Agenesis

Disorder Subdivisions

  • No subdivisions found.

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.

Related Disorders

Symptoms of the following disorders can be similar to those of Bilateral Renal Agenesis. Comparisons may be useful for a differential diagnosis:

Oligohydramnios Sequence (Potter Syndrome) is characterized by an insufficient level of amniotic fluid. It may be caused by the absence of urinary output by the fetus or by chronic leakage of fluid from the amniotic sack.

Cat-Eye Syndrome (Coloboma of Iris-Anal Atresis Syndrome), is a disorder which is characterized by a fissure in the iris of the eye and the absence of an anal opening. Other abnormalities may include renal agenesis.

Fraser Syndrome (Cryptophthalmos Syndrome) is a genetic disorder in which the infant is born with sealed eyelids and incomplete development of the sexual organs.

Melnick-Fraser Syndrome (Branchio-Oto-Renal Syndrome) is a genetic disorder characterized by hearing loss and kidney malformations, including renal agenesis.

MURCS Association (Mullerian Duct, Renal and Cervical Vertebral Defects) is a rare disorder characterized by malformation of the vertebrae, and absence of a vagina and kidneys.

Rokitansky Sequence is a disorder in which the vagina and uterus are incompletely formed.

Sirenomelia Sequence results in the growth of a single lower extremity. (For more information on this disorder, choose "Sirenomelia" as your search term in the Rare Disease Database.

Unilateral Renal Agenesis is the presence of only one kidney at birth.

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

Organizations related to Renal Agenesis, Bilateral

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.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2007/08/07 00:00:00 GMT+0

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