Blue Diaper Syndrome

Blue Diaper Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Blue Diaper Syndrome 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

  • Drummond's Syndrome
  • Hypercalcemia, Familial, with Nephrocalcinosis and Indicanuria

Disorder Subdivisions

  • None

General Discussion

Blue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient. Symptoms typically include digestive disturbances, fever, irritability and visual difficulties. Some children with blue diaper syndrome may also develop kidney disease. Infants with this disorder may have bluish urine-stained diapers. Blue diaper syndrome is inherited as an autosomal or X-linked recessive trait.

Symptoms

Blue diaper syndrome is a rare inborn error metabolism that is usually detected when urine produces unusual blue stains on an infant's diapers (indoluria). This occurs when intestinal bacteria break down excessive amounts of unabsorbed tryptophan.



Symptoms of blue diaper syndrome may include irritability, constipation, poor appetite, vomiting, and the failure to grow and gain weight at the expected rate (failure to thrive). Some children with Blue diaper syndrome may have frequent fevers and intestinal infections.



Additional symptoms may include poor vision and abnormally high levels of calcium in the blood (hypercalcemia). Excessive calcium may accumulate in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure.



Some infants may have eye abnormalities including underdevelopment (hypoplasia) of the optic disc, abnormal eye movements, and an abnormally small cornea (microcornea), the front, clear portion of the eye through which light passes.

Causes

Blue diaper syndrome is a rare disorder inherited as an autosomal recessive trait although X-linked recessive inheritance has not been completely ruled out. Genetic diseases are determined by two genes, one received from the father and one from the mother.



Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.



X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is "turned off" and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is "turned off". Males have one X chromosome and if they inherit an X chromosome that contains a disease gene, they will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. Males can not pass an X-linked gene to their sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% to have a son affected with the disease, and a 25% chance to have an unaffected son.



Symptoms, such as the blue urine stains on diapers, develop due to the intestinal breakdown of excessive amounts of tryptophan and the accumulation of indican and related compounds (e.g., indigotin) in the urine (indicanuria). When tryptophan is broken down by intestinal bacteria, it is converted into an organic compound called indole. Indole is absorbed and broken down into another organic compound called indican. When exposed to air, indican converts into indigo blue dye giving the urine a distinctive blue color. Although the exact nature of the biochemical defect remains uncertain, it is believed to be related to a defect in the intestinal absorption and transport of tryptophan.

Affected Populations

Blue diaper syndrome is an extremely rare metabolic disorder that affects males and females in equal numbers. The incidence of the disorder in the general population is unknown.

Standard Therapies

Diagnosis

A diagnosis of blue diaper syndrome is made based upon a thorough clinical evaluation, a detailed patient history, identification of characteristic symptoms, and the demonstration of indican in a fresh urine sample (indicanuria).



Treatment

Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium. It is hoped that a calcium restricted diet may help to prevent kidney damage. The diet should also be low in protein and the amount of vitamin D should be limited. Antibiotics may be administered to reduce or eliminate certain intestinal bacteria. Nicotinic acid may also be beneficial to control intestinal infections. Foods with high levels of tryptophan should be avoided, such as turkey and warm milk.



Genetic counseling will of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

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

Alon US. Blue Diaper Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:681.



Yamada T, Alpers DH, Kaplowitz N, Laine L, et al., eds. Textbook for Gastroenterology. 4th ed. Lippincott Williams & Wilkins. Philadelphia, PA; 2003:2635.



Brenner BM, Rector Jr FC. The Kidney. 4th ed. W.B. Saunders Company. Philadelphia, PA; 1991:1601.



Buyce ML. Editor-in-Chief. Birth Defects Encyclopedia. Blackwell Scientific Publications. Center for Birth Defects Information Services, Inc., Dover, MA; 1990:1712.



JOURNAL ARTICLES

Chen Y, Wu L, Xiong Q. The ocular abnormalities of blue diaper syndrome. Metab Pediatr Syst Ophthalmol. 1991;14:73-5.



Libit SA, Ulstrom RA, Doeden D. Fecal Pseudomonas aeruginosa as a cause of the blue diaper syndrome. J Pediatr. 1972;81:546-7.



Drummond KN, Michael AF, Ulstrom RA, Good RA. The blue diaper syndrome: familial hypercalcemia with nephrocalcinosis and indicanuria; a new familial disease, with definition of the metabolic abnormality. Am J Med. 1964;37:928-48.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:211000; Last Update:06/10/1997. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=211000 Accessed On: August, 2006.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Internet: http://www.CLIMB.org.uk



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



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



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/



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/



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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