Blue diaper syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Blue diaper syndrome | |||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = Blue diaper syndrome is inherited in an [[autosomal recessive]] manner. | |||
| synonyms = Drummond's syndrome | |||
| field = [[Pediatrics]], [[Genetics]] | |||
| symptoms = Blue discoloration of urine in diapers, [[failure to thrive]], [[hypercalcemia]], [[nephrocalcinosis]] | |||
| complications = [[Kidney stones]], [[renal failure]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[LAT2]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Urinalysis]], [[genetic testing]] | |||
| differential = [[Hartnup disease]], [[cystinuria]] | |||
| treatment = Dietary management, [[antibiotics]] for infections | |||
| medication = [[Antibiotics]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
}} | |||
'''Other Names:''' Hypercalcemia, familial, with nephrocalcinosis and indicanuria | '''Other Names:''' Hypercalcemia, familial, with nephrocalcinosis and indicanuria | ||
Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. | Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. | ||
== '''Cause''' == | == '''Cause''' == | ||
The defect in [[tryptophan]] absorption may be associated with mutations in the '''LAT2 and TAT1 genes'''. | The defect in [[tryptophan]] absorption may be associated with mutations in the '''LAT2 and TAT1 genes'''. | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
Inheritance is [[autosomal recessive]] or [[X-linked recessive]]. | Inheritance is [[autosomal recessive]] or [[X-linked recessive]]. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood ([[hypercalcemia]]) may result in accumulation of calcium in the kidneys ([[nephrocalcinosis]]) leading to impaired kidney function and possible kidney failure. | Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood ([[hypercalcemia]]) may result in accumulation of calcium in the kidneys ([[nephrocalcinosis]]) leading to impaired kidney function and possible kidney failure. | ||
The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of [[tryptophan]], a nutrient of the diet, leading to increase of [[indican]] and related compounds in the urine (indicanuria). 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. | The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of [[tryptophan]], a nutrient of the diet, leading to increase of [[indican]] and related compounds in the urine (indicanuria). 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. | ||
== '''Diagnosis''' == | == '''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. | 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''' == | == '''Treatment''' == | ||
Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium, protein, [[vitamin D]], and [[tryptophan]]. [[Antibiotics]] may also be used to control intestinal infections. | Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium, protein, [[vitamin D]], and [[tryptophan]]. [[Antibiotics]] may also be used to control intestinal infections. | ||
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{{rarediseases}} | {{rarediseases}} | ||
{{stub}} | {{stub}} | ||
Latest revision as of 19:02, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Blue diaper syndrome | |
|---|---|
| |
| Synonyms | Drummond's syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Blue discoloration of urine in diapers, failure to thrive, hypercalcemia, nephrocalcinosis |
| Complications | Kidney stones, renal failure |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the LAT2 gene |
| Risks | Family history of the condition |
| Diagnosis | Urinalysis, genetic testing |
| Differential diagnosis | Hartnup disease, cystinuria |
| Prevention | N/A |
| Treatment | Dietary management, antibiotics for infections |
| Medication | Antibiotics |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
Other Names: Hypercalcemia, familial, with nephrocalcinosis and indicanuria
Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers.
Cause[edit]
The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes.
Inheritance[edit]
Inheritance is autosomal recessive or X-linked recessive.
Signs and symptoms[edit]
Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure. The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of tryptophan, a nutrient of the diet, leading to increase of indican and related compounds in the urine (indicanuria). 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.
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.
Treatment[edit]
Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium, protein, vitamin D, and tryptophan. Antibiotics may also be used to control intestinal infections. Genetic counseling can also be beneficial, as well as taking part in clinical trials.
NIH genetic and rare disease info[edit]
Blue diaper syndrome is a rare disease.
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Rare diseases - Blue diaper syndrome
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