Research progress in the eXpression of uridine diphosphate－glucuronosyl transferase 1A1 gene polymorphism / 中华实用儿科临床杂志

The uridine diphosphate_glucuronosyl transferase 1A1(UGT1A1)gene mutation can affect the ex_pression of UGT1A1 gene and enzyme activity,and then reduce bilirubin metabolism leading to unconjugated hyperbi_lirubinemia. With the development of molecular biotechnology,more and more studies are trying to identify the patho_genesis of these polymorphisms by analyzing the expression and enzyme activity of UGT1A1 gene polymorphisms. Now, the progresses in the study of the expression of UGT1A1 gene polymorphism were reviewed.

Incidence Of Silicosis And Silicotuberculosis In Coal And Stone Industry In The State Of Chhattisgarh

Silicosis is an occupational disease reported in silica, stone & mining industry. No proper report on workers in industries using silica in stones and coal has been done from Chhattisgarh till date. Detailed history, lung functions and chest x-ray were done. Diagnosis was made on the basis of radiology & history. Data analysis was done with the help of the statistical package for social sciences software. The Chi-square test was used for determining the relationship between qualitative data and descriptive statistics was used where required. Out of the total 16 reported cases, 13 had respiratory symptoms. Radiological abnormalities were noted in all. Lung functions revealed obstruction in 25%, restriction in 12.5 %, while mixed ventilatory defects in 62.5% subjects. 16 cases of silicosis and silicotuberculosis were reported. They had high respiratory morbidity (81.25%), cough and dyspnea being predominant symptoms. Duration of exposure correlates with radiological findings and increased incidence of silicosis

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation.

Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal period but also during adult life. Here, we describe a case with a novel homozygous UGT1A1 p.Pro176Leu mutation.

Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II

Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS. We experienced an interesting case of HS showing persistent jaundice after splenectomy, and upon further evaluation, the 25-year-old female patient was found to have HS combined with UGT1A1 deficiency. Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS. Careful evaluation of inappropriately elevated bilirubin level compared with the degree of hemolysis is important, reflecting the therapeutic implication of splenectomy and cholecystectomy.

Breast Feeding and Jaundice / 한양의대학술지

Even though there is a strong link between breast feeding and jaundice, it is natural and it may have a partially beneficial role in the neonate. There are two types of jaundice associated with breast feeding. First, insufficient caloric intake during the first week of life may increase serum unconjugated bilirubin concentration, which is known as "breast feeding jaundice (BFJ)". This increased severity of physiologic jaundice results from the increased enterohepatic circulation (EHC) of bilirubin, but not because of a factor in breast milk. Second, prolongation of unconjugated hyperbilirubinemia into the third and later weeks of life in the healthy newborn is a regularly occurring extension of physiologic jaundice, which is known as "breast milk jaundice (BMJ)". This is caused by a factor in breast milk inhibits the glucuronyl transferase in the liver and/or increases the EHC of bilirubin. The acceptable bilirubin level in the full-term healthy breast-fed infant needs to be discussed not only to prevent unnecessary interruption of breast feeding, but also to prevent kernicterus. Optimal breast feeding practices are crucial to prevent the BFJ and to minimize the intensity of BMJ. Further research is needed to clarify the benefit of bilirubin in relation to adaptation of extrauterine life.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.

Isolated Unconjugated Hyperbilirubinemia after Liver Transplantation

PURPOSE: In our experience, post-LT persistent isolated unconjugated hyperbilirubinemia (IUH) has been frequently observed even after liver transplantation (LT) from normal donors. The present study was performed to evaluate the incidence and clinical significance of post-LT IUH. METHODS: Eighty-five patients were enrolled, and they had undergone adult-to-adult living donor LT between Jan 1999 and Jun 2003 and they had been followed-up for more than 2 years. Persistent post-LT IUH was defined as the case that showed repeated IUH 3 times or more per year. We excluded those cases that had other liver function abnormality, biliary complication, active infection or hemolysis. The donor's condition and the long-term prognosis of the post-LT IUH patients were investigated. RESULTS: Sixteen patients (18.8%) showed post-LT IUH. Seven of them underwent LT from donors who had IUH preoperatively. Nine (10.6%) of them, however, underwent LT from normal donors, that is, there was newly developed IUH postoperatively. There was no clinical factor associated with post-LT IUH for those nine patients, yet they developed no graft failure and major complications. A gradual increasing tendency of the bilirubin level during follow-up duration was observed for 3 of these 9 patients. CONCLUSION: Although about 10% patients developed post-LT IUH from normal donors, they all showed a good prognosis. Therefore, post-LT IUH was likely to be benign. However, close observation may be required because a gradual increasing tendency of bilirubin level was observed in some patients.

Preliminary study on the mechanism and the therapeutic effect of neonatal unconjugated hyperbilirubinemia using microecological preparation / 重庆医科大学学报

Objective:To study the therapeutic effect and the mechanism of microecological preparation to reduce the serum bilirubin level in neonatal unconjugated hyperbilirubinemia(UCHB).Methods:Forty-six neonates with UCHB were divided into two groups.Beside the conventional treatment,pulvis polyvitamin lactobacillus(E.faecium,B.subtilis)was given to the investigated group.Total serum bilirubin(TSB)levels were determined by diazo coincidence analysis colorimetric method with full automatic biochemical analysor.Results:After the 72-hour treatment,the decreased TSB levels of the investigated group were more obvious than those of the control group, P