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Zhongguo Dang Dai Er Ke Za Zhi =... Jul 2017Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1 gene, which encodes the Δ4-3-oxo-steroid...
Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1 gene, which encodes the Δ4-3-oxo-steroid 5β-reductase. Cholestatic jaundice is the main clinical manifestation, accompanied by malabsorption of fat and fat-soluble vitamins. This paper reported the clinical and genetic features of a CBAS2 patient definitely diagnosed by AKR1D1 genetic analysis. An 8-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 7 months. On physical examination, growth retardation and malnutrition were discovered besides mild jaundice of the skin and sclera. The liver was palpable 8 cm below the right subcostal margin with medium texture, and the spleen was not enlarged. On liver function test, elevated levels of bilirubin (predominantly conjugated bilirubin) and transaminases were detected, but serum total bile acids and γ-glutamyl transpeptidase levels were within the normal ranges. Liver histopathologic analysis showed disorganized bile ducts, obvious multinucleated giant cells, significant cholestasis in hepatocytes, together with portal and interstitial fibrosis and lymphocytic infiltration. Via next generation sequencing analysis and Sanger sequencing confirmation, the infant proved to be a compound heterozygote of the AKR1D1 variants c.579+2delT and c.853C>T(p.Q285X), two novel mutations originated from his mother and father, respectively. CBAS2 was thus definitely diagnosed, and chenodeoxycholic acid was given orally. As a result, the abnormal liver function and hepatomegaly were improved gradually. On a follow-up 3 months later, a soft liver was palpable 2.5 cm below the right subcostal margin, and all liver function indices recovered to normal ranges.
Topics: Bile Acids and Salts; Cholestasis; Humans; Infant; Liver; Male; Mutation; Oxidoreductases; Steroid Metabolism, Inborn Errors
PubMed: 28697823
DOI: 10.7499/j.issn.1008-8830.2017.07.002 -
World Journal of Clinical Cases Sep 2021The immune-mediated invasion of IgG4-positive plasma cells in the liver is found in some autoimmune hepatitis. Giant-cell hepatitis (GCH) is a very rare pathological...
BACKGROUND
The immune-mediated invasion of IgG4-positive plasma cells in the liver is found in some autoimmune hepatitis. Giant-cell hepatitis (GCH) is a very rare pathological feature in adults, and the clinical characteristics of the simultaneous appearance of the two pathological phenomena are not clear.
CASE SUMMARY
A 68-year-old woman was hospitalized with fatigue, poor appetite, and yellow urine for 20 d. Liver function tests and immunological indexes were significantly abnormal and accompanied by elevated serum IgG4 levels. Liver pathology revealed severe inflammation of the interface between the portal tract and hepatocytes, portal area inflammation, plasma cell infiltration, formation of rosette cells, IgG4-positive plasma cells > 10/high-power field, IgG4/IgG > 40%, and multinucleated liver cell swelling. IgG4-related autoimmune hepatitis (AIH) combined with GCH was diagnosed, and methylprednisolone was administered at 40 mg/day. Two weeks later, the clinical symptoms disappeared, and the liver function and immunological indicators were significantly improved. Methylprednisolone was reduced at a rate of 4-8 mg per week to 8 mg/day for maintenance. A second liver biopsy 48 wk later indicated that liver inflammation and fibrosis were significantly improved. IgG4-positive plasma cells and GCH were not detected. A literature search was conducted to analyze articles reporting similar pathological phenomena.
CONCLUSION
AIH with simultaneous IgG4-positive plasma cell infiltration and GCH, liver inflammation, and fibrosis is possibly more severe than typical AIH but sensitive to corticosteroids.
PubMed: 34616822
DOI: 10.12998/wjcc.v9.i25.7527 -
Canadian Liver Journal 2021Giant cell hepatitis (GCH) is a rare entity in adults that is characterized by large multinucleated hepatocyte formation and parenchymal inflammation. We present a case...
Giant cell hepatitis (GCH) is a rare entity in adults that is characterized by large multinucleated hepatocyte formation and parenchymal inflammation. We present a case of acute liver failure in a 33-year-old woman secondary to autoimmune hepatitis (AIH). A liver biopsy revealed submassive hepatocyte necrosis consistent with GCH. We conducted a literature review of 187 reported cases of post-infantile GCH in adults. AIH was the most commonly reported cause of GCH, but GCH was associated with a wide spectrum of etiologies, including infections, rheumatological diseases, hematological diseases, malignancies, and medications. The severity of disease can range from mild hepatitis to fulminant hepatic failure. The mortality rate among the cases in the literature was 18.82%. GCH is managed by treating the underlying cause, and ribavirin has been proposed as a treatment option for idiopathic GCH. A small number of patients progress to requiring orthotopic liver transplant, but recurrence is possible post-transplant.
PubMed: 35991767
DOI: 10.3138/canlivj-2020-0024 -
BMC Gastroenterology Jul 2014Staphylococcus epidermidis is the most frequently isolated species of the coagulase negative staphylococci from human stool. However, it is not clear how its presence in...
BACKGROUND
Staphylococcus epidermidis is the most frequently isolated species of the coagulase negative staphylococci from human stool. However, it is not clear how its presence in the gut affects the cellular structures and functions of this organ. In this study therefore, the pathogenicity of strains of S. epidermidis which were isolated from the stool samples of apparently healthy children was investigated in mice and rats.
METHODS
The albino mice (22-30 g) and albino rats (100-155 g) of both sexes were infected orally and intraperitoneally with graded doses of the bacteria and subjected to behavioral and histopathological examinations.
RESULTS
Acute infection in these animals caused temporary behavioural changes as shown by restlessness and abdominal stretchings but did not result in death even at a dosage of 2 × 109 cfu/kg. Daily administration of the same dose for 14 days resulted in the death of 11 out of 21 (52.4%) mice. Histopathological examination of the affected organs showed congestions, aggregations and multinucleated hepatocytes in the liver, infiltration of the kidney tubule interstitial by chronic inflammatory cells, coagulative necrosis of the kidney, spleen, intestine and stomach cells as well as marked stroma fibrosis of the spleen. Coagulative necrosis of cells was the most frequently occurring pathological alteration. Lethality and pathological effects reflected the virulence factors expressed by the organism which are biofilm formation, haemagglutination properties and capsule production.
CONCLUSIONS
The results indicate that strains of S. epidermidis colonising the gut can cause serious pathological changes on certain organs such as kidney, liver, intestine, stomach and spleen which, depending on their severity, could be fatal.
Topics: Animals; Behavior, Animal; Female; Gastrointestinal Tract; Humans; Kidney; Liver; Male; Mice; Rats; Spleen; Staphylococcal Infections; Staphylococcus epidermidis; Virulence
PubMed: 25016472
DOI: 10.1186/1471-230X-14-126 -
International Journal of Clinical and... 2020The function of Interleukin-6 (IL-6) in the regenerative process is not fully understood. The aim was to show the IL-6 role in hepatocyte regeneration by identifying the...
INTRODUCTION
The function of Interleukin-6 (IL-6) in the regenerative process is not fully understood. The aim was to show the IL-6 role in hepatocyte regeneration by identifying the proliferative rate of hepatocytes following partial hepatectomy.
MATERIAL AND METHODS
Eighty male adult Sprague-Dawley rats were categorized into two equivalent groups (n = 40 rats); non-treated, and treated group with IL-6 of 35 µg/100 gm body weight according to lethality study for a four-day observation. Both groups were subjected to 70% hepatic resection. Liver specimens were taken for histo/immunohistochemical studies. Five measures were investigated histopathologically; binucleation, mitoses, thickening of the hepatic plate, ductular reaction, and presence of inflammatory cells. Ki-67 labeling index was evaluated using mouse anti-Ki-67 antibody.
RESULTS
In non-treated group; binucleation and multinucleation were noted in 12 cases (30%), bizarre cells with abnormal mitoses 16 cases (42%), and thickening of liver cell plate 18 cases (45%), in contrast to 32 (80%), 30 (75%) and 28 (70%), in treated group. Patches of inflammatory infiltrate were more marked in the treated group. Ki-67 labeling index was higher in the treated group (-value 0.00001). The degree of Ki-67 reactivity in the treated group was: negative 6 (15%), weak 6 (15%), moderate 16 (40%) and strong 12 (30%) compared with 18 (45%), 13 (32.5%), 6 (15%) and strong 3 (7.5%) in non-treated group.
CONCLUSION
IL-6 is valuable in the induction of liver cell regeneration. Correlation with biochemical assay and flow cytometric studies is recommended.
PubMed: 32782672
DOI: No ID Found -
Zhongguo Dang Dai Er Ke Za Zhi =... Apr 2018Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is an inborn error of bile acid metabolism caused by mutations of SLC10A1 gene. This paper reports the...
Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is an inborn error of bile acid metabolism caused by mutations of SLC10A1 gene. This paper reports the clinical and genetic features of a patient with this disease. A 3.3-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 3 months. Physical examination revealed moderate jaundice of the skin and sclera. The liver was palpable 3.5 cm below the right subcostal margin with a medium texture. Serum biochemistry analysis revealed markedly elevated bilirubin (predominantly direct bilirubin) and total bile acids (TBA), as well as decreased 25-OH-VitD level. On pathological analysis of the biopsied liver tissue, hepatocyte ballooning and cholestatic multinucleate giant cells were noted. The lobular architecture was distorted. Infiltration of inflammatory cells, predominantly lymphocytes, was seen in the portal tracts. In response to the anti-inflammatory and liver protective drugs as well as fat-soluble vitamins over 2 months, the bilirubin and transaminases levels were improved markedly while the TBA kept elevated. Because of persisting hypercholanemia on the follow-up, SLC10A1 gene analysis was performed at his age of 17.2 months. The child proved to be a homozygote of the reportedly pathogenic variant c.800C>T (p. Ser267Phe), while the parents were both carriers. NTCP deficiency was thus diagnosed. The infant was followed up until 34.3 months old. He developed well in terms of the anthropometric indices and neurobehavioral milestones. The jaundice disappeared completely. The liver size, texture and function indices all recovered. However, the hypercholanemia persisted, and the long-term outcome needs to be observed.
Topics: Humans; Infant; Male; Organic Anion Transporters, Sodium-Dependent; Symporters
PubMed: 29658451
DOI: 10.7499/j.issn.1008-8830.2018.04.005