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Target Concepts:
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Query: UMLS:C0008325 (
cholecystitis
)
3,686
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
X-linked
hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare genetic primary immunodeficiency disease caused by mutations of the CD40 ligand (CD40L) gene with normal or elevated levels of IgM and markedly decreased serum IgG, IgA, and IgE. Liver disease may occur as a clinical manifestation in XHIGM. This complication appears to increase with age. We report an 18-year-old male patient who had recurrent episodes of acalculous
cholecystitis
(AC) and sclerosing cholangitis (SC). The diagnosis of XHIGM was confirmed by the finding of CD40L expression < 1% of normal and a tyrosine 169 asparaginase (t526a) mutation in exon 5 (the tumor necrosis factor domain) of the CD40L gene. The patient had direct hyperbilirubinemia (direct bilirubin 5.5 mg/dL, total bilirubin 8.7 mg/dL), cholestasis (alkaline phosphatase 1133 U/L, gamma-glutamyl transferase 1019 U/L) and elevated transaminases (aspartate aminotransferase 70 U/L, alanine aminotransferase 101 U/L). Findings on abdominal ultrasound and abdominal computed tomography were compatible with AC. After the fourth episode of
cholecystitis
, cholecystectomy and liver biopsy were performed. Operative cholangiography revealed poor opacification of the hepatic duct and proximal common bile duct; the upstream intrahepatic bile ducts were not visualized. The biopsy specimen showed marked fibrosis of the portal areas. Enterococcus species was cultured from the bile. Children or adolescents with recurrent AC and SC should be evaluated for an underlying immunodeficiency syndrome such as XHIGM.
...
PMID:Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome. 1603 32
We describe a 40-year-old woman with
Salmonella
cholecystitis
complicating adult-onset
X-linked
chronic granulomatous disease (CGD) caused by a
de novo
mutation in the paternal-origin
CYBB
gene. CGD was diagnosed by familial genetic analysis of the
CYBB
gene encoding NADPH oxidase gp91
phox
after detection of a refractory subcutaneous abscess at the age of 28. At age 40, she began experiencing frequent fever and diarrhea over a period of 3 months that were refractory to antibacterial treatment.
Cholecystitis
was evident. Her symptoms improved after percutaneous trans-hepatic gallbladder aspiration puncture with stand-by cholecystectomy.
Salmonella enterica
serotype Enteritidis (
S.
Enteritidis) was detected in blood, stool, and bile acid samples. Due to her suppressed bactericidal ability caused by CGD,
S.
Enteritidis was considered to have translocated from the gut to reside in the gallbladder, causing her repeated enteritis and sepsis. When encountering CGD with recurrent salmonellosis, the possibility of
cholecystitis
should be considered as another infection focus.
...
PMID:
Salmonella
Enteritidis cholecystitis with chronic granulomatous disease. 2994 48
