Blue diaper syndrome is a rare,

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

or X linked recessive

metabolic disorder A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the ...

characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia. It is caused by a defect in

tryptophan Tryptophan (symbol Trp or W) is an α-amino acid that is used in the biosynthesis of proteins. Tryptophan contains an α-amino group, an α- carboxylic acid group, and a side chain indole, making it a polar molecule with a non-polar aromatic ...

absorption. Bacterial degradation of unabsorbed tryptophan in the intestine leads to excessive

indole Indole is an aromatic heterocyclic organic compound with the formula C8 H7 N. It has a bicyclic structure, consisting of a six-membered benzene ring fused to a five-membered pyrrole ring. Indole is widely distributed in the natural environmen ...

production and thus to

indican Indican is a colourless organic compound, soluble in water, naturally occurring in ''Indigofera'' plants. It is a precursor of indigo dye. Chemical reactions Common and significant reactions involving indican are as follows: *Indican is a glycos ...

uria which, on oxidation to

indigo blue Indigo is a deep color close to the color wheel blue (a primary color in the RGB color space), as well as to some variants of ultramarine, based on the ancient dye of the same name. The word "indigo" comes from the Latin word ''indicum'', m ...

, causes a peculiar bluish discoloration of the diaper (indoluria). Symptoms typically include digestive disturbances, fever and visual problems. Some may also develop

disease A disease is a particular abnormal condition that negatively affects the structure or function of all or part of an organism, and that is not immediately due to any external injury. Diseases are often known to be medical conditions that a ...

due to the incomplete breakdown of tryptophan. 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. 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. 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”. 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.

Signs and symptoms

The signs and symptoms of blue diaper syndrome may include irritability,

constipation Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement ...

poor appetite Anorexia is a medical term for a loss of appetite. While the term in non-scientific publications is often used interchangeably with anorexia nervosa, many possible causes exist for a loss of appetite, some of which may be harmless, while others i ...

, vomiting, and poor growth. Some children experience frequent fevers and intestinal infections.

Hypercalcemia Hypercalcemia, also spelled hypercalcaemia, is a high calcium (Ca2+) level in the blood serum. The normal range is 2.1–2.6 mmol/L (8.8–10.7 mg/dL, 4.3–5.2 mEq/L), with levels greater than 2.6 mmol/L defined as hypercalcemi ...

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 The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power ...

and

optic disc The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. Because there are no rods or cones overlying the optic disc, it corresponds to a small blind spot in each eye. The ganglion cell axons form the ...

Genetics

Blue diaper syndrome affects males and females equally. The number of people affected in the general population is unknown. Blue diaper syndrome is thought to be inherited as an

disorder. Recent research indicates that

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...

s in the ''

LAT2 Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the ''LAT2'' gene. This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome Williams syndrome (WS) is a genetic disorder ...

'' and '' TAT1''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

s 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. This syndrome is diagnosed through clinical evaluation and a fresh urine sample

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.

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. Examples of food with high levels of tryptophan include turkey and milk. 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. Genetic counseling can also be beneficial, as well as taking part in clinical trials.

References

External links

* {{Medical resources , DiseasesDB = 33872 , ICD10 = , ICD9 = , ICDO = , OMIM = 211000 , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = C536239 , Orphanet = 94086 Autosomal recessive disorders Genetic disorders with OMIM but no gene Diapers Rare syndromes Syndromes affecting the gastrointestinal tract