Background: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disorder, characterized by episodes of intense pruritus, elevated serum levels of alkaline phosphatase and bilirubin, and near-normal -glutamyl transferase. These episodes may persist for weeks to months before spontaneously resolving, with patients typically remaining asymptomatic between occurrences. Diagnosis entails the evaluation of clinical symptoms and targeted genetic testing. Although BRIC is recognized as a benign genetic disorder, the triggers, particularly psychosocial factors, remain poorly understood.
Case Summary: An 18-year-old Chinese man presented with recurrent jaundice and pruritus after a cold, which was exacerbated by self-medication involving vitamin B and paracetamol. Clinical and laboratory evaluations revealed elevated levels of bilirubin and liver enzymes, in the absence of viral or autoimmune liver disease. Imaging excluded biliary and pancreatic abnormalities, and liver biopsy demonstrated centrilobular cholestasis, culminating in a BRIC diagnosis confirmed by the identification of a novel gene mutation. Psychological assessment of the patient unveiled stress attributable to academic and familial pressures, regarded as potential triggers for BRIC. Initial relief was observed with ursodeoxycholic acid and cetirizine, followed by an adjustment of the treatment regimen in response to elevated liver enzymes. The patient's condition significantly improved following a stress-related episode, thanks to a comprehensive management approach that included psychosocial support and medical treatment.
Conclusion: Our research highlights genetic and psychosocial influences on BRIC, emphasizing integrated diagnostic and management strategies.
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http://dx.doi.org/10.12998/wjcc.v12.i20.4427 | DOI Listing |
Oral Dis
December 2024
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University, Wuhan, China.
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View Article and Find Full Text PDFJ Surg Case Rep
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Department of Surgery, Kuwait University, Kuwait City, Kuwait.
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View Article and Find Full Text PDFFront Endocrinol (Lausanne)
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Department of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, China.
Although pituitary tumors (PTs) are mostly benign, some PTs are characterized by low surgical resection rates, high recurrence rates, and poor response to conventional treatments and profoundly affect patients' quality of life. Everolimus (EVE) is the only FDA-approved mTOR inhibitor, which can be used for oral treatment. It effectively inhibits tumor cell proliferation and angiogenesis.
View Article and Find Full Text PDFRev Bras Ortop (Sao Paulo)
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Departamento de Reumatologia, Kassab Orthopedics Institute, Ksar Saïd, Tunísia.
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View Article and Find Full Text PDFRev Bras Ortop (Sao Paulo)
November 2024
Disciplina de Ortopedia, Pontifícia Universidade Católica do Paraná (PUC/PR), Londrina, PR, Brasil.
Synovial chondromatosis is an uncommon, progressive, benign condition favoring synovial metaplasia resulting from the production of cartilaginous tissue as loose bodies within the joints. In rare cases, it can affect the interior of the shoulder joint and present with pain, edema, and impaired mobility. The diagnosis is challenging, requiring imaging techniques.
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