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Objective To analyze the main clinical manifestations,laboratory features and prognosis of neonatal intrahepatic cholestasis caused by Citrin defiency (NICCD).Methods Twenty-nine NICCD infants were diagnosed by blood tandem mass spectrometry (MS-MS)analysis and/or SLC25A13 mutation analysis from July 2012 to February 2015 in Children's Hospital of Chongqing Medical University.Clinical data of 29 cases were analyzed retrospectively which included manifestations,laboratory features and prognosis.The general situation,feeding,liver function,growth were followed up.Results Twenty-nine infants suffering from NICCD presented jaundice in an early time,and some clinical manifestations were investigated such as hepatomegaly (20/29 cases),splenomegaly (3/29 cases),anemia (14/29 cases),and failure to thrive (9/29 cases).Laboratory data suggested that all of 29 patients had increased conjugated bilirubin,total bile acid,γ-glutamyl transferase and alkaline phosphatase.Some patients also showed abnormal coagulation function (20/22 cases),dyslipidemia (9/20 cases),increased blood lactic acid (22/26 cases) and alpha-fetoprotein (14/14 cases),decreased albumin (24/29 cases),blood glucose (17/22 cases) and ceruloplasmin (4/4 cases).The pathological analysis of one patient's liver indicated the edema and degeneration of liver cells,intrahepatic cholestasis and a small amount of fibrous tissue hyperplasia in portal area.MS-MS analysis of blood samples revealed distinctive increase in methionine,tyrosine,threonine,citrulline,arginine and free carnitine,long chain acyl-carnitine in most patients.Gas chromatography-mass spectrometer (GC-MS) analysis of urine samples mainly showed elevated 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvic acid.Prognosis showed that most of the NICCD patients (8/29 cases) could recover in one-year old with a lactose-free,medium chain triglyceride-enriched formula,and one patient died of liver cirrhosis.Three patients at over one-year old had the preference of a high protein and low carbohydrate diet.Conclusions Infants might be considered to have NICCD if they have jaundice in an early time,with the clinical characteristics of hepatomegaly,splenomegaly,abnormal coagulation function,anemia,failure to thrive,dyslipidemia,decresed albumin and blood glucose,increased blood lactic acid and alpha-fetoprotein.After that further tests of MS-MS,GC-MS and gene analysis of this disease are needed to confirm diagnosis.
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OBJECTIVE: (1) To estimate the prevalence of cancer as an cause of abdominal pain, (2) to identify useful information of history and physical examination, (3) to assess performance of potential screening tests, and (4) to formulate an efficient algorithm for distinguishing patients with cancer.<BR>DESIGN: Prospective observational study.<BR>SETTING: General medical outpatient clinic in a university teaching hospital.<BR>PARTICIPANTS: 470 outpatients (men, 216; women, 254; mean age±standard deviation, 44.6±16.5; age range, 16 to 89) complaining of abdominal pain at their first visits.<BR>MEASUREMENTS AND MAIN RESULTS: A cancer causing abdominal pain was found in 18 patients (3.8%) . These 18 patients with cancer and the remaining 452 patients without cancer were compared regarding clinical findings. Findings significantly more common in patients with cancer were: age of 40 years or over; unexplained weight loss; insidious onset; and duration of pain longer than one preceding month without relief. Among recorded physical findings, countenance reflecting severe pain, fever, and abdominal tenderness were significantly associated with cancer. Elevation of LDH, WBC, CRP, ESR, and CEA were moderately useful discriminators for patients with and without cancer. The logistic regression analysis with complete clinical data set covering history, physical examination and laboratory tests showed that the only findings significantly associated with cancer were unexplained weight loss (odds ratio: 18.9, 95% CI 1.5-20.1), duration of pain over one month (odds ratio: 24.8, 95% CI 1.6-27.9), countenance of severe pain (odds ratio: 159.1, 95% CI 4.5-162.1), and WBC>10, 000 (odds ratio: 22.3, 95% CI 1.1-31.0) .<BR>CONCLUSIONS: Our data support the value of the combined use of history, physical and selected laboratory findings in detecting cancer among patients with abdominal pain. Application of such selected criteria holds the promise of more efficient care with judicious and effective use of endoscopy or sonography without lowering the quality of care.