Blue diaper syndrome
Other names	Other Names: Hypercalcemia, familial, with nephrocalcinosis and indicanuria
Blue diaper syndrome has an autosomal recessive pattern of inheritance.
Medication	none

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Blue diaper syndrome is a rare, autosomal recessive or X linked recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia. ^{[1] [2]}

It is caused by a defect in tryptophan absorption. Bacterial degradation of unabsorbed tryptophan in the intestine leads to excessive indole production and thus to indicanuria which, on oxidation to indigo blue, causes a peculiar bluish discoloration of the diaper (indoluria). Symptoms typically include digestive disturbances, fever and visual problems. Some may also develop disease due to the incomplete breakdown of tryptophan. ^[3]

It was characterized in 1964, and inherited in an autosomal recessive pattern although X-linked recessive inheritance has not been completely ruled out since reported patients have been male. ^[4]

Since this syndrome is X linked, the chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. 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. ^[5] 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”. ^[3] Parents can undergo genetic testing to see if their child will get this syndrome, but most do not find out until they see the symptoms mentioned below. ^[5]

Signs and symptoms

The signs and symptoms of blue diaper syndrome may include irritability, constipation, poor appetite, vomiting, and poor growth. Some children experience frequent fevers and intestinal infections. ^{[1] [3]}

Hypercalcemia could be a potential issue in affected children. Some children with blue diaper syndrome have eye or vision issues, particularly underdeveloped portions of the eye, including the cornea and optic disc.^{[ citation needed]}

Genetics

Blue diaper syndrome affects males and females equally. The number of people affected in the general population is unknown. ^[1]

Blue diaper syndrome is thought to be inherited as an autosomal recessive disorder.^{[ citation needed]}

Recent research indicates that mutations in the LAT2 ^[6] and TAT1 ^[7] genes might be involved in causing this syndrome.

It is linked to X linked gene and in order for a person to develop it, both parents must carry the gene. ^[3] This syndrome is diagnosed through clinical evaluation and a fresh urine sample ^[3]

Diagnosis

A diagnosis is usually made through clinical evaluation, observing detailed patient history then identifying the possible characteristic symptoms and testing fresh urine samples to enhance such evidence. ^[1]

Treatment

Children with blue diaper syndrome are put on restricted diets. This is in effort to reduce kidney damage. Restrictions include: calcium, protein, vitamin D, and tryptophan. Calcium is restricted to help prevent kidney damage. ^[3] Examples of food with high levels of tryptophan include turkey and milk. ^[3] Diets are also expected to be low in protein, which will help prevent symptoms, along with restricting vitamin D intake. Antibiotics may be used to control or eliminate particular intestinal bacteria.^{[ citation needed]}

Genetic counseling can also be beneficial, as well as taking part in clinical trials. ^[8]

References

External links

• Blue diaper syndrome at NIH's Office of Rare Diseases