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Blue Diaper Syndrome

Histidinemia


Presentation

  • Clinical description Affected infants present with digestive problems, fever and periodic irritability. Visual disturbances have also been reported.[orpha.net]
  • Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience.[books.google.com]
  • Here, we report on a boy who presented with neonatal-onset diarrhea, metabolic acidosis, transient hepatopathy, recurrent hypoglycemia, and blue-stained urine spots in his diapers.[ncbi.nlm.nih.gov]
  • As with some generic aims of biotechnology, the use of bacteria presents environment-friendly alternatives to the present dye and denim industries. Such organisms naturally produce indigo blue as part of their metabolism.[scientiaetarte151.wordpress.com]
Collapse
  • Because of a tendency toward dehydration, anesthetic drugs that may mask a low circulating volume and lead to vascular collapse should be avoided. Appropriate hydration and urinary output must be enforced.[accessanesthesiology.mhmedical.com]
Aspiration
  • Paralytic ileus results in increased risk of regurgitation and aspiration during induction. Consequently, a rapid sequence induction is mandatory.[accessanesthesiology.mhmedical.com]
Failure to Thrive
  • Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems.[malacards.org]
  • Symptoms of fever, constipation, poor weight gain, failure to thrive, and irritability can also be part of the syndrome.[disorders.eyes.arizona.edu]
  • Hypercalcemia and nephrocalcinosis are associated with failure to thrive, recurrent unexplained fever, infection, irritability, and constipation. Prognosis is unfavorable if complicated by nephrocalcinosis.[accessanesthesiology.mhmedical.com]
Chest Pain
Abnormal Eye Movement
  • Clinical Characteristics Ocular Features: A single patient has been reported with microcornea, optic nerve hypoplasia, and 'abnormal' eye movements. The full ocular phenotype is unknown but 'visual problems' are sometimes mentioned in other reports.[disorders.eyes.arizona.edu]
  • Ocular abnormalities, such as microcornea, hypoplasia of the optic disc, and abnormal eye movements, have been described. The indoluria may look like the one in Hartnup syndrome, but a specific hyperaminoaciduria exists.[accessanesthesiology.mhmedical.com]
  • Some infants may have eye abnormalities including underdevelopment (hypoplasia) of the optic disc, abnormal eye movements, and an abnormally small cornea (microcornea), the front, clear portion of the eye through which light passes.[rarediseases.org]
  • Other complications may include the following: Eye defects including underdeveloped optic discs, abnormal eye movements, and an abnormally small cornea Kidney stones due to very high amounts of calcium in blood (hypercalcemia) How is Blue Diaper Syndrome[dovemed.com]
Neonate-Onset
  • Here, we report on a boy who presented with neonatal-onset diarrhea, metabolic acidosis, transient hepatopathy, recurrent hypoglycemia, and blue-stained urine spots in his diapers.[ncbi.nlm.nih.gov]
Kidney Failure
  • 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.[malacards.org]
  • 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. 0003072 Nephrocalcinosis Too much calcium deposited[rarediseases.info.nih.gov]
  • Excessive calcium may accumulate in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure.[rarediseases.org]

Workup

  • ." #2 eric Posted 04 December 2006 - 11:32 AM Weight loss or malabsorbtion are "red flag" symptoms in IBS and require a organic workup to find the problem."[ibsgroup.org]
Vitamin C Increased
Treponema Pallidum
  • pallidum, HIV), reproductive system examination (such as screening cervical inflammation) General physical examination (such as blood pressure, electrocardiogram) and ask the family history of illness, personal history, etc., do genetic counseling work[healthfrom.com]
Foam Cell
  • "Carnosine and its constituents inhibit glycation of low-density lipoproteins that promotes foam cell formation in vitro". FEBS Lett . 581 (5): 1067–1070. doi : 10.1016/j.febslet.2007.01.082 .[ipfs.io]

Treatment

  • Treatment Treatment of pediatric blue - diaper syndrome Department of Pediatrics Pediatrics Pediatrics Pediatrics Pediatrics Pediatrics Pediatrics Pediatrics Treatment: drug treatment supportive treatment Treatment cycle: 2-4 months Cure rate: 40% Commonly[healthfrom.com]
  • As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment.[books.google.ro]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Diagnosis and Prognosis: A full description of this syndrome is still pending due to its rarity. Affected infants are identified by a blue discoloration of diapers during the newborn period.[disorders.eyes.arizona.edu]
  • (Outcomes/Resolutions) The prognosis of Blue Diaper Syndrome depends upon the severity of the signs and symptoms.[dovemed.com]
  • (B) prognosis The disease is poor prognosis, there is no surviving to adult report.[healthfrom.com]
  • Prognosis - Blue diaper syndrome Not supplied. Treatment - Blue diaper syndrome Resources - Blue diaper syndrome[checkorphan.org]
  • Prognosis is unfavorable if complicated by nephrocalcinosis. Ocular abnormalities, such as microcornea, hypoplasia of the optic disc, and abnormal eye movements, have been described.[accessanesthesiology.mhmedical.com]

Etiology

  • Etiology The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes, encoding two amino acid transporters. Genetic counseling Transmission may be autosomal recessive or X-linked.[orpha.net]
  • Etiology The cause of pediatric blue diaper syndrome (A) the cause of the disease The disease is a sign of congenital metabolic abnormalities, the cause of the body is abnormal in the body of tryptophan metabolism.[healthfrom.com]
  • Etiology The gene associated with this disease has not been identified. The majority of the patients showed variable degrees of intellectual deficit. Some patients had seizures and one had congenital myopathy. A few patients had no symptoms at all.[rarediseases.info.nih.gov]
  • (Etiology) Blue Diaper Syndrome is a metabolic genetic disorder that results from intestinal bacteria breaking down large amounts of tryptophan that do not get properly absorbed by the body The blue-colored urine that is characteristic of this condition[dovemed.com]

Epidemiology

  • Summary Epidemiology The prevalence is unknown. Clinical description Affected infants present with digestive problems, fever and periodic irritability. Visual disturbances have also been reported.[orpha.net]
  • Epidemiology Blue diaper syndrome affects males and females equally. The number of people affected in the general population is unknown. [9] Blue diaper syndrome is thought to be inherited as an autosomal recessive disorder.[checkrare.com]
  • Epidemiology About 30 individuals have been reported worldwide. Etiology The gene associated with this disease has not been identified. The majority of the patients showed variable degrees of intellectual deficit.[rarediseases.info.nih.gov]
  • Epidemiology Vitamin B deficiency is rare in the UK. Prior to food fortification with niacin, epidemics of pellagra were seen. However, sporadic cases are still occasionally seen.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995).[books.google.ro]
  • Simultaneous measurement of brain and gut function and the application of ATD contribute to the elucidation of the complex pathophysiology of IBS.[gut.bmj.com]
  • Etiology and Pathophysiology Malabsorption can be caused by many diseases affecting the small intestine ( Table 184.1 ) and pancreas ( Table 184.2 ).[link.springer.com]
  • Pathophysiology Serotonin acts on smooth muscle to cause diarrhea, colic, and malabsorption. Histamine and bradykinin, through their vasodilator effects, cause flushing.[merckmanuals.com]
  • Von Haehling S, Doehner W, Anker SD: Nutrition, metabolism, and the complex pathophysiology of cachexia in chronic heart failure. Cardiovasc Res 2007;73:298–309.[karger.com]

Prevention

  • Calcium is restricted to help prevent kidney damage. Examples of food with high levels of tryptophan include turkey and warm milk.[en.wikipedia.org]
  • Prevention Prevention of Children 's Blue Diaper Syndrome Preventive measures should be done from pre-pregnancy to prenatal: Premarital physical examination in the prevention of birth defects play a positive role, the size depends on the inspection items[healthfrom.com]
  • The baby's eyes are shielded by an opaque mask to prevent exposure to the light. 3. The eye shield should be properly sized and correctly positioned to cover the eye completely but prevent any occlusion of the nares. 4.[the-medical-dictionary.com]
  • This restriction may help prevent kidney damage and eye/vision defects Foods that are high in tryptophan should be avoided.[dovemed.com]
  • Prevention - Blue diaper syndrome Not supplied. Diagnosis - Blue diaper syndrome Not supplied. Prognosis - Blue diaper syndrome Not supplied. Treatment - Blue diaper syndrome Resources - Blue diaper syndrome[checkorphan.org]

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