The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Listen If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.
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What are the other Names for this Condition? When bilirubin does not bind efficiently, it builds up in the bloodstream. This inhibitor is thought to occur in the blood serum of pregnant women, and it likely blocks the enzyme activity necessary for the development of the fetal liver. Familial cases may result from the pregnant woman having a mutation in the uridine diphosphate-glucuronosyltransferase gene UGT1A1. Who gets Lucey-Driscoll Syndrome?
The presentation of symptoms may occur at birth Both males and females may be affected Worldwide, individuals of all racial and ethnic groups may be affected What are the Risk Factors for Lucey-Driscoll Syndrome? Some risk factors are more important than others. Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Lucey-Driscoll Syndrome? In familial cases, mutation s in the UGT1A1 gene in a pregnant woman is the cause of Lucey-Driscoll Syndrome in the newborn The UGT1A1 gene codes for the enzyme uridine diphosphate-glucuronosyltransferase This enzyme plays a significant role in the proper disposal of bilirubin Many familial cases of Lucey-Driscoll Syndrome show autosomal recessive inheritance Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome.
If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. How is Lucey-Driscoll Syndrome Diagnosed? Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis. What are the possible Complications of Lucey-Driscoll Syndrome? The complications of Lucey-Driscoll Syndrome may arise if the condition is left untreated, and can include: Seizures Kernicterus brain damage due to accumulation of bilirubin in blood Neurological abnormalities Complications may occur with or without treatment, and in some cases, due to treatment also.
How is Lucey-Driscoll Syndrome Treated? If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders Regular medical screening at periodic intervals with tests and physical examinations are recommended.
What is the Prognosis of Lucey-Driscoll Syndrome? Inherited disorders of bilirubin clearance. Pediatric research, 79 3 , Arias, I. Transient familial neonatal hyperbilirubinemia. The Journal of clinical investigation, 44 9 , Thaler, M.
Jaundice in the newborn: algorithmic diagnosis of conjugated and unconjugated hyperbilirubinemia. JAMA, 1 , Wang, X. Bilirubin metabolism: applied physiology. Current Paediatrics, 16 1 ,
Sindrome di Lucey-Driscoll