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SLC51A encodes the alpha subunit of the heteromeric organic solute transporter alpha-beta (OSTα-OSTβ), an important contributor to intestinal bile acid (BA) reabsorption in the enterohepatic circulation(1,2). Here, we identified the first case of OSTα deficiency in a child with unexplained elevated
Although there has been a marked decrease in the number of infants with intractable diarrhea in Japan, the difficulty in treating it still remains unchanged. Here we report two infants who suffered presumably from "chronic nonspecific enterocolitis" with resistance to the usual treatment. Besides
Purpose: We aimed to describe epidemiology of diarrhea and cholestasis in critically ill patients and explore associations between these two conditions.
Material and methods:
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility.
OBJECTIVE
Progressive familial intrahepatic cholestasis characterized by normal serum gamma-glutamyltransferase activity can be due to mutations in familial intrahepatic cholestasis type 1 (FIC1) (ATP8B1), a gene expressed in several organs. In some cases, it is associated with extrahepatic
Jaundice in Hodgkin's disease occurs in 3-13% of the cases reported in the medical literature and can be due to several causes. Cholestatic jaundice associated with ductopenia may be a consequence of an associated paraneoplastic process and can occur several months before the development of
The ARC-syndrome is a rare disease with the obligatory symptoms arthrogryposis, renal tubular dysfunction and cholestasis. Optional further symptoms like ichthyosis, diarrhea, central nervous system defects and recurrent infections have been reported. The ARC-syndrome was first reported by
Mitochondrial respiratory chain deficiency is a common cause of mitochondrial disease in children. This study aimed to review the clinical, enzymatic and genetic characteristics of a Chinese boy with progressive intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency.
BACKGROUND
Progressive familial intrahepatic cholestasis type 1 (PFIC1) is an inherited disease characterized by cholestatic features. We report two patients with PFIC1 who underwent liver retransplantation.
METHODS
One patient was a 3-year-old female who underwent liver transplantation for PFIC1.
Feeding intolerance is a common problem in infants who have had multiple or extensive resections of their small bowel. Chronic malabsorption and diarrhea are common side effects that inhibit the advancement of enteral feedings and prolong dependence on parenteral nutrition (PN). Poor growth,
Pathogenic sequence variants in the nuclear bile acid receptor FXR, encoded by NR1H4, have been reported in a small number of children with low-GGT cholestasis progressing to liver failure. We describe three additional children from two unrelated families with cholestasis and liver failure due to
OBJECTIVE
To study the clinical features and diagnosis of intrahepatic cholestasis of pregnancy (ICP).
METHODS
During the last 10 years 1241 cases of ICP stayed in our hospital. Their clinical data were retrospectively reviewed.
RESULTS
5.2% of all the maternity patients had ICP. It occurred more in
OBJECTIVE
Progressive familial intrahepatic cholestasis syndromes are characterized by impaired bile acid secretion resulting in pruritus, coagulopathy, diarrhea, and malnutrition leading to progressive liver failure and death in childhood. Partial internal or external biliary drainage can relieve
BACKGROUND
Alagille syndrome (AGS) can result in pruritic self-mutilation and disabling or disfiguring xanthomas. Though external biliary diversion and transplantation have been described for AGS, few data exist for the use of ileal exclusion (IE) in this setting.
METHODS
Three patients with AGS
OBJECTIVE
Osteoarticular infections require several weeks of antibiotic therapy, but little is known about the epidemiology of adverse events (AE) including symptomatic Clostridium difficile-associated diarrhea during treatment in these patients.
METHODS
Cohort study (1996-2011) at a tertiary