Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033774 (pruritus)
 14,546 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of Alagille syndrome are reported, father and son. This, a 6-year-old boy, presented with neonatal cholestasis but thereafter evolved with progressively decreasing jaundice and persisting pruritus. A liver biopsy confirmed the absence of intrahepatic bile ducts with preservation of hepatic architecture and no fibrosis. The patient had a characteristic phenotype: short stature, triangular face, deep eyes with hypertelorism, partial embryotoxon and data of peripheral pulmonary artery stenosis. His father died 43-year-old by a hepatocarcinoma. His liver biopsy showed also absence of intrahepatic bile ducts. In addition to the association Alagille's syndrome hepatocarcinoma (previously reported in six cases, three into the same family), it should be stressed in this case the long survival and the fact he had many children: the case with Alagille's syndrome, five children in good health, and one who died shortly after birth.
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PMID:[Alagille's syndrome: a family case and its association with hepatocellular carcinoma]. 165 82

The Watson-Alagille syndrome is a distinctive type of congenital cholestasis, in which hepatic ductular hypoplasia is associated with various ocular, bony, and cardiac anomalies, often with a characteristic facies. The prognosis is surprisingly good, and we present a 26-year-old woman with this syndrome in whom intense pruritus and xanthomatosis had been prominent during infancy but had subsequently cleared completely. The recognition of this syndrome in a young child with cholestatic jaundice may obviate the need for a diagnostic laparotomy.
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PMID:Xanthomas in the Watson-Alagille syndrome. 310 38

Cholestasis associated with Alagille syndrome may, in a few cases, be extremely severe and result in major impairment in the quality of life during early childhood and end up in cirrhosis eventually. We report the results of liver transplantation in 12 children with a severe hepatic form of Alagille syndrome. All children presented with cholestatic jaundice from birth, peculiar facies, stenosis of the peripheral pulmonary artery, and posterior embryotoxon; butterfly-like vertebrae were present in 9 children. At the time of transplantation (mean age 7 years 10 months) refractory pruritus was present in 9 children, xanthoma in 11, and height and weight retardation in 11. Total serum bilirubin ranged from 116 to 322 mumol/L and total serum cholesterol from 3.5 to 29 mmol/L. Systolic right ventricular pressure was moderately raised (36 to 48 mmHg) in 5 children; mean creatinine clearance was 99 ml/min/1.73 m2. Histologic examination of the removed livers showed cirrhosis, severe annular fibrosis, and moderate portal fibrosis in 4 children each. Follow-up in the 11 survivors has ranged from 14 months to 5 1/2 years. All lead normal lives. Pruritus and xanthomas disappeared. Increase in height was observed in 8 of the 10 survivors who had growth retardation prior to transplantation. School level is normal in 4 (median age at LT: 5 yr 9 mo) and below normal in 6 (median age at OLT: 9 yr 9 mo). Liver function tests are normal in 10 children. Mean creatinine clearance is 101 ml/min/1.73 m2. These results indicate that the quality of life can be considerably improved after liver transplantation in children with a severe hepatic form of Alagille syndrome and suggest that it could be carried out before these children attend elementary school.
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PMID:Liver transplantation in children with Alagille syndrome--a study of twelve cases. 765 62

A genetic syndrome causing paucity of interlobular bile ducts (Alagille syndrome) is characterized by five main characteristics: typical, peculiar facies; chronic cholestasis; posterior embryotoxon; butterfly-like vertebral-arch defects; and cardiovascular malformations. In the complete form of the syndrome, all five features are observed. Four or less of these characteristics are present in the incomplete or partial forms of this syndrome. Other, less frequent characteristics (growth retardation, mental retardation, renal and bone abnormalities as well as a high-pitched voice) have also been observed. An autosomal dominant mode of genetic transmission with variable penetrance seems likely. Therapy consists of nutritional supplementation of medium-chain triglycerides, essential fatty acids and fat-soluble vitamins. Liver transplantation has been used successfully to treat patients with liver failure, portal hypertension or severe pruritus and xanthomatosis.
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PMID:Alagille syndrome today. 888 70

The authors performed a partial biliary diversion on a 10-month-old child with Alagille syndrome using the appendix vermiformis as a conduit between the gallbladder and the abdominal wall skin. Three years later the patient is well, and his previously severe pruritus is controlled. The appendix has a lumen closer to that of the biliary tree, does not accumulate significant amounts of bile, and provides a smaller stoma. The small bowel is undisturbed, and there is less interference with a possible future liver transplant.
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PMID:Cholecystoappendicostomy in a child with Alagille syndrome. 904 15

Alagille syndrome (arteriohepatic dysplasia) is a genetic disorder with autosomal dominant transmission which has been localized to chromosome 20p. Cutaneous manifestations include jaundice, pruritus, and widespread xanthomata. We report a child with severe Alagille syndrome in whom orthotopic liver transplantation caused rapid resolution of disfiguring xanthomas.
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PMID:Resolution of xanthomas in Alagille syndrome after liver transplantation. 965 15

Alagille syndrome is characterized by a paucity of bile ducts in the liver. The syndrome is associated with some or all the features of chronic cholestasis, cardiac disease, skeletal abnormalities, ocular defects and a distinctive facial appearance. The most common finding is chronic cholestasis, which causes intractable pruritus, xanthoma, deficiency of certain metabolic nutrients and growth retardation. Cardiac abnormalities are the most common cause of death in these patients. It is unusual to see the clinical picture of hepatic failure resulting in cirrhosis and requiring transplantation, but liver transplantation is indicated in Alagille syndrome patients who have chronic cholestasis. If the disease is diagnosed in childhood, transplantation can improve significantly the patient's prognosis and the quality of life. In recent years, auxiliary liver transplantation has gained popularity for treating both acute and chronic liver disease. Heterotopic segmental liver transplantation is an alternative treatment modality for patients who do not require native liver removal. Individuals with Alagille syndrome are good candidates for this type of treatment. J Pediatr Surg 36:667-671.
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PMID:Successful heterotopic segmental liver transplantation from a live donor to a patient with Alagille syndrome. 1128 5

Alagille syndrome (AGS) causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. This study was performed to determine whether partial external biliary diversion (PEBD) is effective for relief of pruritus and xanthomas in AGS patients who fail conventional medical therapy. Between the years 1985 and 2001, 9 AGS patients underwent PEBD. Complete follow-up data were available for all patients. The average age at PEBD was 4.8 (range 1.4-10) years. The average duration of follow-up was 7.5 (range 0.5-16.0) years. All 9 patients had severe, mutilating pruritus (grade 4) prior to diversion. At 1 year post-PEBD, the average pruritus score was 1.1; 8 patients had only mild scratching when undistracted. Three patients with extensive xanthomas prior to PEBD had complete resolution within 1 year. Mean serum bile salt levels (n = 5) decreased from 136.5 to 37.1 micromol/L and mean cholesterol (n = 7) from 724 to 367 mg/dL 1 year after PEBD. A single 21-year-old patient with PEBD for 14 years experienced an increase in pruritus from grade 1 to grade 4 within 2 months of elective reversal of PEBD. In conclusion, PEBD is effective for treating severe pruritus and hypercholesterolemia in AGS patients without cirrhosis who did not respond to medical therapy. PEBD should be considered as a therapeutic option for these patients before referral for liver transplantation because of morbid complications.
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PMID:Partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome. 1553 79

Cholestatic liver disease affects a small percentage of children, but therapy results in millions of healthcare dollars being spent each year. Close monitoring of nutritional status, pruritus, and complications from portal hypertension should improve the patient's quality of life and survival without liver transplantation. Other comorbid conditions, such as cardiac or renal disease, must also be integrated into the care plan and will affect the overall prognosis of the patient. Portal hypertension leads to ascites, variceal hemorrhage, and infection, which can result in significant mortality if not promptly recognized and treated. Surgical shunts are being used less because the expertise to perform endoscopic sclerotherapy and endoscopic band ligation is available at most medical centers. However, many cholestatic diseases, including biliary atresia, progressive familial intrahepatic cholestasis (PFIC) I, II, and III, and Alagille syndrome, may still require liver transplantation (Table 1). The cost of this procedure can exceed several hundred thousand dollars per patient, without including the annual costs of immunosuppressant therapy and medical monitoring. Meticulous medical management of nutrition and the sequelae of portal hypertension may prolong survival and reduce the potential morbidity and mortality of liver transplantation.
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PMID:Treatment of Pediatric Cholestatic Liver Disease. 1295 47

The Alagille syndrome is one of the most common inherited disorders causing chronic liver disease during childhood. During the 1990s, 38 children with Alagille syndrome were evaluated at two pediatric centers in Buenos Aires, Argentina. Characteristic clinical, humoral, and cutaneous features were analyzed. The average age of diagnosis was 29 months old (range of between 2 months and 15 years). Cholestasis was evident in 92% of patients during the neonatal period. Family antecedents related to the syndrome were found in 18.5% of the patients. Peculiar facies developed in 85% of patients. Chronic cholestasis and pruritus were observed in all of the patients and jaundice was evident in 78%. Eighty-four percent of the patients had heart disease (pulmonary stenosis, intraauricular communication, intraventricular communication), 76% of them showed growth retardation, and vertebrae abnormalities were found in 63%. Embryotoxon appeared in 76% of patients, and renal disturbances in 21%. Eleven children (28%) had xanthomas, in the neck, elbows, palms, helixes, inguinal area, gluteus, and knees. The earliest findings appeared in the first months of life, and the latest at 5 years of age. The xanthomas located in the folds had a stony aspect. Cholesterol levels ranging from 220 to 1600 mg percentage (mg%) were demonstrated in all of the children with xanthomas. Liver transplantation was performed in seven of the patients (18.4%). Two of them died after this operation. The disappearance of xanthomas after transplantation was remarkable in all of the patients.
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PMID:Alagille syndrome: cutaneous manifestations in 38 children. 1566 Aug 89


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