Overview and Facts:

Blue Diaper Syndrome, also known as Drummond’s Syndrome, is an extremely rare autosomal recessive metabolic disorder. It is also called hypercalcemia, indicanuria or nephrocalcinosis. This disease is characterized by an insufficient intestinal breakdown of an important α-amino acid, called tryptophan. Blue diaper syndrome is inherited as an autosomal recessive trait linked with X-chromosome.

Incidentally, blue diaper syndrome may also lead to kidney diseases in most of the children. Infants suffering from this disease generally leave bluish urine stains in their diapers. Some common signs of this disease are digestive disturbances, irritability and visual difficulties.

Blue Diaper Syndrome Symptoms:

One of the major symptoms of blue diaper syndrome is blue urine stains in the diaper of a child. However, there are several other signs that can help detect this genetic syndrome. These symptoms are listed below:

• Irritability
• Constipation
• Vomiting
• Poor appetite
• Inability to gain weight

Along with these symptoms, children suffering from this metabolic syndrome may also have an intestinal infection, frequent fevers, hypercalcemia (high blood calcium levels) and nephrocalcinosis (accumulation of excessive amount of calcium in kidneys that may lead to kidney failure).

Symptoms of this disorder also include problems associated with eyesight, such as poor vision, hypoplasia (underdevelopment of optic disk) and microcornea (abnormally small cornea).

Risk Factors:

As it is a genetic disease, birth of a child with Blue Diaper Syndrome depends on the genetics of the child’s parents. If the father is the carrier of the defective gene, then there are high chances of a girl child getting the disorder. However, if mother is the carrier, then the child, whether a girl or boy, has 50% chances of getting the condition.

Moreover, if both parents are infected then there are only 25% chances of the child being born without this disorder.

Does My Baby have Blue Diaper Syndrome?

One of the most simple ways to detect if your child is suffering from Blue Diaper Syndrome is checking their diaper. If there are blue stains on their diaper, then it simply indicates that your child is suffering from Blue Diaper Syndrome.

Causes and Prevention of Blue Diaper Syndrome:

• Causes of Blue Diaper Syndrome:

Blue diaper syndrome is an autosomal recessive genetic disease. A recessive genetic disease occurs when a child inherits the same abnormal gene for the exact same trait from both the parents. However, if a child inherits infected gene only from one parent, he/she would still carry the disease, but won’t show the symptoms.

Moreover, this disorder is linked to X chromosome, i.e. the abnormal gene is located on the X chromosome. Women have two X chromosomes, while men have only one. In women, one of the X chromosomes is “turned off” along with all other genes that she carries. The abnormal gene causing the blue diaper syndrome is generally carried by the deactivated chromosome, and its symptoms can’t be detected in the carrier women.

On the other hand, in males, there is only one X chromosome, which carries the abnormal gene. Males can’t pass over the genetic syndrome to their sons as they pass on their Y chromosome to sons and X chromosome is only passed on to daughters. So, a male carrier parent can pass on this disease to their daughters only, while as a mother can pass it on to both sons as well as daughters.

This abnormal gene in the kids leads to their inability to absorb tryptophan by their intestines. This results in accumulation of tryptophan in their intestines. This tryptophan then gets broken down by their intestinal bacteria. The blue diaper stains are caused due to an intestinal breakdown of tryptophan which leads to production of indican and other similar compounds. These compounds get excreted through the urine (indicanuria) and turn blue when they come in contact with air producing the characteristic blue stains on the diaper of the infants.

• Prevention of Blue Diaper Syndrome:

Owing to the fact that Drummond’s Syndrome is a genetic disorder, there is no particular guideline or approach to prevent it. Genetic testing of pregnant women and other family members, as well as prenatal diagnosis, might contribute to better understanding of pregnancy-related risk of this disease. In families with a history of this condition, genetic could help identify risks prior to family planning.

Research is still going on to find the possibilities of the prevention and treatment of acquired and inherited genetic disorders like Blue Diaper Syndrome. Periodic medical examination, including physical examination and lab tests, are highly recommended.

Diagnosis and Tests of Blue Diaper Syndrome:

Blue diaper syndrome diagnosis requires several things to be clinically evaluated that include detailed patient history, identification of characteristic symptoms and examination of indican from fresh sample of urine.

Treatment and Care of Blue Diaper Syndrome:

The treatment of this metabolic disorder is done by putting the child on restricted diet. It is believed that limiting the intake of calcium, protein, Vitamin D and tryptophan might be helpful in the prevention of kidney damage.

Antibiotics are also used in order to eliminate several intestinal bacteria. Nicotinic acid could be beneficial to keep intestinal infections at bay. Also, foods such as warm milk and turkey should be avoided as they contain a relatively large amount of tryptophan.

OTC Medicines and Self-Management Methods:

Since it is a genetic disease, there is no over-the-counter medication or self-management method that can help in the treatment of the disease. However, limiting the consumption of dietary tryptophan, calcium and proteins are advised for improving the quality of life.

Health Tip by Expert:

Genetic counseling is very beneficial, go for it.