Blue diaper syndrome

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Blue diaper syndrome
Other namesOther Names: Hypercalcemia, familial, with nephrocalcinosis and indicanuria

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

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.[2]

It was characterized in 1964, and is associated with the X linked sex gene.[3]

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.[4] 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”.[2] 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.[4]

Symptoms[edit]

The symptoms of blue diaper syndrome could include irritability, constipation, poor appetite, vomiting, and poor growth. Some children experience frequent fevers and intestinal infections.[1][2]

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.

Genetics[edit]

Blue diaper syndrome has an autosomal recessive pattern of inheritance.

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.

Recent research indicates that mutations in the LAT2[5] and TAT1[6] 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.[2] This syndrome is diagnosed through clinical evaluation and a fresh urine sample [2]

Diagnosis[edit]

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[edit]

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.[2] Examples of food with high levels of tryptophan include turkey and warm milk.[2] 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. Nicotinic acid may be used to control intestinal infections.[citation needed]

Genetic counseling can also be beneficial, as well as taking part in clinical trials.[7]

References[edit]

  1. ^ a b c d "Blue Diaper Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-03-01.
  2. ^ a b c d e f g "Blue Diaper Syndrome - NORD (National Organization for Rare Disorders)".
  3. ^ Drummond KN, Michael AF, Ulstrom RA, Good RA (1964). "The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality". Am J Med. 37 (6): 928–48. doi:10.1016/0002-9343(64)90134-2. PMID 14246093.
  4. ^ a b "Blue Diaper Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials". www.malacards.org.
  5. ^ Park SY, Kim JK, Kim IJ, Choi BK, Jung KY, Lee S, Park KJ, Chairoungdua A, Kanai Y, Endou H, Kim do K (2005). "Reabsorption of neutral amino acids mediated by amino acid transporter LAT2 and TAT1 in the basolateral membrane of proximal tubule". Arch Pharm Res. 28 (4): 421–32. doi:10.1007/BF02977671. PMID 15918515.
  6. ^ Kim do K, Kanai Y, Matsuo H, Kim JY, Chairoungdua A, Kobayashi Y, Enomoto A, Cha SH, Goya T, Endou H (2002). "The human T-type amino acid transporter-1: characterization, gene organization, and chromosomal location". Genomics. 79 (1): 95–103. doi:10.1006/geno.2001.6678. PMID 11827462.
  7. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Blue diaper syndrome". www.orpha.net.

External links[edit]

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External resources