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6-week-old male with nonsyndromic Alagille syndrome. Hepatobiliary scintigraphy obtained following the intravenous administration of 0.2 mCi Tc-99m-mebrofenin. (A) Image obtained 2 minutes after the administration of the radiotracer demonstrates normal appearance of the liver (red arrow) and the heart (red asterisk). (B) At 60 minutes the radiotracer is still in the liver (red arrow). There is no excretion to the bowel. The bladder is visualized (green arrow). (C) Delayed image at 24-hours following the administration of the radiotracer demonstrates visualization of bowel loops.
Source publication
We report a case of a newborn with cholestasis that was diagnosed as nonsyndromic Alagille syndrome. The main feature of the disease is a paucity of biliary ducts. There are two known types of the disease: the syndromic type which is associated with other congenital defects and the nonsyndromic type without other anomalies detected at birth. We des...
Similar publications
Alagille syndrome is a rare autosomal dominant disorder characterized by chronic cholestasis due to paucity of intrahepatic biliary ducts, characteristic facies, peripheral pulmonary stenosis, ocular posterior embryotoxon and skeletal abnormalities. Very little information is available on the cholestatic, lipid and lipoprotein profiles in individua...
Background
paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1β mutations. A syndromic phenotype, known as renal cysts and...
Abstract Objectives and study Zinc deficiency in children with cholestatic liver diseases could affect growth and immunity. Zinc supplementation is one of the strategies to prevent the consequences of zinc deficiency in children. We aimed to study the effect of zinc supplementation on the growth of these children. Methods Fifty-five infants and chi...
Bile duct paucity is the absence or marked reduction in the number of interlobular bile ducts (ILBD) within portal tracts. Its syndromic variant, Alagille syndrome (ALGS), is a multisystem disorder with effects on the liver, cardiovascular system, skeleton, face, and eyes. It is inherited as an autosomal dominant trait due to defects in NOTCH signa...
Citations
... Для желтух, связанных с прямой гипербилирубинемией, не существует привязанности к срокам появления. Прямая гипербилирубинемия в подавляющем большинстве случаев является следствием холестаза и всегда требует уточнения [6,10]. ...
... Для желтух, связанных с прямой гипербилирубинемией, не существует привязанности к срокам появления. Прямая гипербилирубинемия в подавляющем большинстве случаев является следствием холестаза и всегда требует уточнения [6,10]. ...
... Для желтух, связанных с прямой гипербилирубинемией, не существует привязанности к срокам появления. Прямая гипербилирубинемия в подавляющем большинстве случаев является следствием холестаза и всегда требует уточнения [6,10]. ...
Jaundice is one of the most common symptoms of the neonatal period which in most cases is not associated with a serious illness. For example, jaundice in healthy newborns which does not affect the child's development. Nevertheless, in 2% of cases the causes of jaundice should be investigated, especially if it is long-term and extends beyond the neonatal period. Underestimating the history and late examination lead to diagnostic errors which sometimes cannot be corrected. The risk of direct hyperbilirubinemia should be taken into account which may be caused by malformations of the biliary tract development or other congenital and acquired diseases of the hepatobiliary system, for the treatment of which cholagogues can be successfully used. The prognosis for the biliary tract anomalies is directly related to the promptness of diagnosis and surgery. Understanding the difference between direct and indirect hyperbilirubinemia in infants is necessary for timely examination and treatment of the infant
... The typical histopathological findings of biliary atresia are inflammation, portal tract fibrosis, cholestasis, and bile duct proliferation which were also absent in our case. 2 Dr. Suborna Rani Das: How will you differentiate between the syndromic and nonsyndromic paucity of bile duct? ...
This article has no abstract. The first 100 words appear below:
A 6-month-old boy of non-consanguineous parents admitted to the Department of Pediatric Gastroenterology with the complaints of progressive jaundice, dark urine and generalized pruritus for one month. The boy was well up to five months of age. Then he developed jaundice which was progressive in nature with intermittent pale colored stool along with dark urine. His mother also complaints for generalized pruritus which was severe in intensity (disturbing sleep and daily activities) without any diurnal variations. There was no history of sib death or family history of a similar type of illness.
... Hepatobiliary scintigraphy may also be useful in cases of clinical ly suspected PIBD. It demonstrates delayed excretion of a radiotracer in bowel visualisation after 24 hours, consistent with delayed biliary excretion accord ing to data from Figel et al [1]. ...
... As the dis ease progres ses, children demonstrate a delay in physical deve lopment and signs of fatsoluble vitamin deficiency (rickets and osteopenia, muscle hypotonia, dry skin and mucous membranes, dimness and fragility of the nails and hair, ophthalmoplegia, petechiae and/ or bleed ing from the mucous membranes) [1,6,10]. ...
... Hepatobiliary scintigraphy may also be useful in cases of clinical ly suspected PIBD. It demonstrates delayed excretion of a radiotracer in bowel visualisation after 24 hours, consistent with delayed biliary excretion accord ing to data from Figel et al [1]. ...
... As the dis ease progres ses, children demonstrate a delay in physical deve lopment and signs of fatsoluble vitamin deficiency (rickets and osteopenia, muscle hypotonia, dry skin and mucous membranes, dimness and fragility of the nails and hair, ophthalmoplegia, petechiae and/ or bleed ing from the mucous membranes) [1,6,10]. ...
Paucity of interlobular bile ducts (PIBD) ranks second place after biliary atresia in the structure of cholestatic liver disease in children. Morphologically, PIBD is characterised by a reduction in the number of interlobular bile ducts in correlation with the portal hepatic tracts (ductopenia). Ductopenia can be found only upon morphological examination. A liver biopsy is the single most informative investigational tool forthis.Therearetwo known types of a paucity of biliary ducts -the syndromic type, which is associated with other congenital defects and the nonsyndromic type, with no other anomalies detected at birth. These may be classified as secondary and primary. Cytomegalovirus is the most frequent infectious etiology in the case of secondary nonsyndromic hypoplasia. Nonsyndromic hypoplasia is also considered to be an inherited autosomal recessive disease, as in many cases the parents of the affected children are relatives and the children's siblings have the same disorder. The presented clinical case of a nonsyndromic form of PIBD was no exception. In the patient, this congenital anomaly complicated the course of acute hepatitis. PIBD, which was revealed during pathomorphology postmortally, played a leading role in the fulminant course of acute hepatitis in the child, who was thought to be healthy previously.
... Для желтух, связанных с прямой гипербилирубинемией, не существует привязанности к срокам появления. Прямая гипербилирубинемия в подавляющем большинстве случаев является следствием холестаза и всегда требует уточнения [6,10]. ...
Jaundice is one of the most common symptoms of the neonatal period which in most cases is not associated with a serious illness. For example, jaundice in healthy newborns which does not affect the child's development. Nevertheless, in 2% of cases the causes of jaundice should be investigated, especially if it is long-term and extends beyond the neonatal period. Underestimating the history and late examination lead to diagnostic errors which sometimes cannot be corrected. The risk of direct hyperbilirubinemia should be taken into account which may be caused by malformations of the biliary tract development or other congenital and acquired diseases of the hepatobiliary system, for the treatment of which cholagogues can be successfully used. The prognosis for the biliary tract anomalies is directly related to the promptness of diagnosis and surgery. Understanding the difference between direct and indirect hyperbilirubinemia in infants is necessary for timely examination and treatment of the infant.
... 16 In paucity of bile ducts, the hepatocytes are directly exposed to the detergent effect of bile acids by the lacking of the bile ducts in portal tracts which results ultimately in biliary cirrhosis. 24 The diagnosis of PFIC is tentative and dependent on clinical parameters (i.e., phenotype, serum GGT and bile acid level), combined with liver biopsy findings. 25 Genotyping, when available, helps to confirm the diagnosis. ...
Material and methods:
The study included 25 patients diagnosed phenotypically as PFIC including 2 with PFIC1, 17 with PFIC2 and 6 with PFIC3. A second group of 25 cholestatic newborns with confirmed etiologies other than PFIC, termed as non-PFIC, included as controls. Liver biopsies from all patients were obtained and immunostained for BSEP and MDR3.
Results:
Negative immunoreaction of BSEP and MDR3 was found in the majority of PFIC group (76 and 64% respectively). Nonetheless, the negative immunoreaction was demonstrated in a considerable number of the non-PFIC group. BSEP immunoreaction was negative in the majority (82.4%) of PFIC2 but in none of the two patients with PFIC1. In addition, negative MDR3 immunoreaction was more frequently associated with PFIC3 compared to non-PFIC group.
Conclusion:
MDR3 and BSEP immunostaining would be a helpful tool in supporting the phenotypic diagnosis of PFIC subtypes and in differentiating PFIC from other causes of neonatal cholestasis.
... Choletastis is the disruption of bile duct excretion due to obstables at the bile duct or liver damage. Cholestasis is the main pathological feature of chronic liver diseases, such as biliary atresia, primary biliary cirrhosis, and primary sclerosing cholangitis (Figiel et al., 2012), and is one of the underlying causes of liver cell damage, liver fibrosis, cirrhosis, and fatal liver failure (Tomur et al., 2011). Existing studies have not been able to clarify fully the mechanism of liver injury caused by cholestasis. ...
The aim of this study was to investigate the protective effects of thymoquinone treatment on cholestatic rats with liver injury. Thirty-two Sprague-Dawley rats were divided randomly into four groups: normal control, bile duct ligation model control, low-dose thymoquinone (25 mg/kg), and high-dose thymoquinone (50 mg/kg). Thymoquinone gavage was administered continuously 3 days before bile duct ligation, and saline, at the same volume, was administered to the control group. The rats were sacrificed after 2 weeks of treatment, and the liver tissues were obtained and frozen. The contents of hydroxyproline (HP), malondialdehyde (MDA), superoxide dismutase (SOD), and glutathione peroxidase (GPx) in the homogenate of the liver tissues were determined to evaluate the changes in hepatic tissue pathology by fibrosis scoring. The HP and MDA levels were significantly lower and the SOD and GPx levels were significantly higher in the thymoquinone-treatment group than the corresponding levels in the model control group, and the differences were statistically significant (P < 0.05) and dose-dependent. The hepatic necrosis areas and hepatic fibrosis scores of the thymoquinone-treatment groups were significantly lower than those of the model group (P < 0.05). Thymoquinone increased the antioxidative capacity of liver and reduced the oxidative stress damage to the liver. Thymoquinone can be used as a liver protectant in patients with cholestasis.
... После билиарной атрезии гипоплазия внутрипеченочных желчных протоков занимает второе место в структуре холестатических заболеваний печени у детей и является частым показанием к трансплантации печени. Выделяют две формы гипоплазии внутрипеченочных желчных протоков: синдромальную и несиндромальную [1,2]. Большинство случаев синдромальной гипоплазии внутрипеченочных желчных протоков представлены синдромом Alagille [3], режесиндромом Williams [4]. ...
... Большинство случаев синдромальной гипоплазии внутрипеченочных желчных протоков представлены синдромом Alagille [3], режесиндромом Williams [4]. Несиндромальная форма гипоплазии внутрипеченочных желчных протоков представляет собой гетерогенную группу расстройств в результате метаболических, инфекционных, иммунных нарушений, а также хромосомных дефектов [5,6], однако во многих случаях этиология остается не выясненнойидиопатическая гипоплазия внутрипеченочных желчных протоков [1,2]. ...
... Из литературы известно, что гипоплазия внутрипеченочных желчных протоков может сочетаться с аномалиями наружных желчевыводящих путей [1]. В нашем исследовании гипоплазия желчного пузыря была выявлена у девяти детей (90%) с синдромальной гипоплазией внутрипеченочных желчных протоков и у восьми пациентов (80%) с несиндромальной гипоплазией внутрипеченочных желчных протоков. ...
Aim. To study the clinica-morphological features of syndromatic and nonsyndromatic paucity of intrahepatic bile ducts in pediatric liver transplant recipients. Methods and results. The clinical records were analyzed and histological studies of native livers of 20 children, who had suffered from paucity of intrahepatic bile ducts and to whom liver transplantation were made, were completed. The obtained data indicate higher levels of AST in patients with nonsyndromatic paucity of intrahepaticbile ducts (p = 0,023). Ductopenia was the more frequent indication of syndromatic form of paucity of intrahepatic bile ducts (p = 0,01), while ductular proliferations, which form «ductular structure», were discovered more often in nonsyndromatic paucity of intrahepaticbile ducts (p = 0,03). The extent of inflammatory-destructive changes was more expressed in nonsyndromatic pauci- ty of intrahepatic bile ducts (p = 0,01). Fibrosis or cirrhosis was formed more often in nonsyndromatic paucity of intrahepatic bile ducts (p = 0,008). Conclusion. Our results indicate more severe clinical and morphological manifestations in nonsyndromatic paucity of intrahepatic bile ducts. These findings may suggest about heavier liver condition in patient with nonsyndromatic form of paucity of intrahepatic bile ducts.
