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Objective:To investigate the clinical and genetic characteristics of genetic and metabolic infantile cholestatic hepatopathy (ICH), and to provide evidence for its diagnosis and treatment.Methods:Clinical data and follow-up outcomes of hospitalized children diagnosed with ICH in the Department of Gastroenterology, Children′s Hospital, Capital Institute of Pediatrics from January 2014 to December 2019 were retrospectively analyzed.Among the 80 children, 27 were female and 53 were male, with a mean age of onset of (39±18) days old.Children with confirmed etiology by high-throughput sequencing analysis were included in the genetic metabolic group (44 cases), and those with idiopathic neonatal cholestasis(INC) of unknown etiology after the systematic examination were included in the INC group (36 cases). The t-test or independent sample rank sum test was used to compare the laboratory test results and biochemical indexes.The infection rate of cytomegalovirus was compared by the Chi- square test. Results:(1) A total of 80 cases were included, and 44 cases (55.0%)were confirmed as INC by high-throughput sequencing.Among those with a positive molecular diagnosis, there were 23 cases of citrin deficiency (CD), 10 cases of Alagille syndrome (ALGS), 6 cases of progressive familial intrahepatic cholestasis (PFIC), 2 cases of congenital bile acid synthesis defect, 2 cases of Nieman Pick disease, and 1 case of cystic fibrosis.(2) Serum total bile acid (TBA) and activated partial prothrombin time (APTT) levels in the genetic metabolic group were significantly higher than those in the INC group (all P<0.05). TBA and APTT levels in genetic metabolites were 180.6 (115.5, 271.6) μmol/L and 40.6 (37.1, 45.2) s, respectively, which were 123.3 (98.8, 163.4) μmol/L and 34.8 (31.7, 40.1) s in INC group, respectively.There was no significant difference in the cytomegalovirus infection rate between the 2 groups ( P>0.05). (3)The pathological examination of liver tissue in the genetic metabolic group was worse than that in the INC group, with spot-like and fusion focal-like necrosis, and 5 cases (4 cases of ALGS and 1 case of CD) showed a reduced number of bile ducts in the portal area and lumen stenosis. Conclusions:CD, ALGS and PFIC are the common causes of genetic and metabolic ICH.Fundamental cause of cholestasis should be actively examined in children with cytomegalovirus infection.High-throughput sequencing is of great significance in the accurate diagnosis of ICH.
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Cholestatic hepatopathy is a hepatobiliary system disease caused by abnormal bile excretion.It is common in infants.And its incidence varies with region and cause.The incidence of cholestatic jaundice in full-term infants is about 1/2 500.The etiology of infantile cholestatic hepatopathy involves many factors including abnormal liver or bile ducts structure, genetic metabolic diseases, infections, endocrine diseases and parenteral nutrition-associated cholestasis.The disease needs to be treated according to the primary disease.If there is a clear etiology, etiological treatment is necessary.Usually symptomatic and comprehensive treatment is adopted due to inconclusive diagnosis.The artical mainly states the present therapy methods.
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OBJECTIVE: To detect the level of fecal primary and secondary bile acids in infants with infantile cholestatic hepatopathy(ICH)and analyze its clinical value. METHODS: Thirty infants with ICH were enrolled in this study,who were diagnosed with infantile cholestatic hepatopathy. Thirty infants with good health condition were enrolled as the healthy control group. The fecal samples were collected respectively in the preparatory treatment phase and treatment phase from infants with ICH and from the healthy infants. Bile acids were extracted from infants' feces and were quantitatively analyzed by liquid chromatography-mass spectroscopy. RESULTS: Among the fecal primary bile acids,the level of cholic acid,chenodeoxycholic and glycochenodeoxycholic acid both in the ICH preparatory treatment group and ICH treatment group was significantly lower than that in the healthy control group(P<0.016).The level of fecal cholic acid and chenodeoxycholic acid of ICH treatment group was higher than in the ICH preparatory treatment group(P<0.016).Among the fecal secondary bile acids,the level of lithocholic acid both in the ICH preparatory treatment group and ICH treatment group was significantly lower than that in the healthy control group(P<0.016),and the level of ursodeoxycholic acid in the ICH preparatory treatment group was lower than that in the ICH treatment group and healthy control group(P<0.016). CONCLUSION: In infants with ICH, the changes of fecal primary bile acids and fecal secondary bile acids have their own characteristics at the early stage of treatment, which may be caused by the short-term treatment,the prognosis of the disease itself and the changes of intestinal function, including intestinal bacteria. Clinical attention should be paid to these changes.
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Objective To study the effects of early application of integrated traditional Chinese medicine (TCM)and western medicine and massage on the incidence and severity of pneumonia and prognosis in the therapeutic course of infants with cytomegalovirus(CMV)infection infantile cholestatic hepatopathy(ICH)accompanied by gastric volvulus(GV). Methods A prospective randomized controlled trial was conducted. 120 infants 1-6 months old with CMV infection ICH and complicated with GV inpatients were divided into treatment group and control group (each,60 cases). The TCM Lidanheji(consisting of artemisiae capillaris 30 g,weeping forsythia 30 g,Chinese goldthread 5 g,prepared rhubarb 5 g,unpeeled root of herbaceous peony 30 g,cassia 5 g,fruit of citron or trifoliate orange 10 g,large-headed atractylodes 10 g,fruit of Chinese magnoliavine 10 g,pangolin scale 3 g and licorice root 5 g)for oral administration or enema and ganciclovir intravenous injection were given to both groups. In the control group,based on the above treatment,postural and diet therapy,prokinetics(domperidone)were given in cases with GV. The massage treatment was only applied for treatment of GV in treatment group. The pneumonia in both groups was treated in accord to the conventional diagnosis and treatment for infantile pneumonia,bronchiolitis,severe pneumonia and the guide and management of infantile community acquired pneumonia. The total number of cases with pneumonia and its severity occurring before and after treatment in the course of the disease,the clinical therapeutic effects of ICH, GV and infantile pneumonia,the clinical physical signs,biochemical indexes and the time of hospitalization were observed and compared between the two groups. Results Compared with control group,after treatment the curative rate and total effective rate of ICH,GV,infant pneumonia in treatment group were significantly higher〔the curative rate of ICH:83.05%(49/59)vs. 71.93%(41/57),total effective rate:96.61%(57/59)vs. 91.23%(52/57);the curative rate of GV:72.88%(43/59)vs. 51.79%(29/56),total effective rate:96.61%(57/59)vs. 78.57%(44/56);the curative rate of infant pneumonia:81.08%(30/37)vs. 67.44%(29/43),total effective rate:100%(37/37)vs. 100%(43/43),P<0.05 or P<0.01〕. In the treatment group,the total number of cases with pneumonia occurring in the therapeutic course and the incidence of severe pneumonia were significantly less than those in the control group〔the occurrence of pneumonia:12 cases vs. 21 cases,the incidence of severe pneumonia:16.67%(2/12) vs. 42.86%(9/21),P<0.05 or P<0.01〕. The enlargement of liver and spleen,the level of total bilirubin(TBil), direct bilirubin(DBil),total bile acids(TBA)and alanine aminotransferase(ALT)in two groups after treatment were significantly lower than those before treatment,the changes being more marked in treatment group(P<0.05 or P<0.01). The time of stay in hospital in treatment group was remarkably shortened(days:21.32±3.26 vs. 27.38±6.09, P<0.05). Conclusion Early interference with combined TCM and western medicine and massage for treatment of infants with CMV infection ICH accompanied by GV can significantly decrease the incidence of pneumonia and its severity occurring in the disease course,therefore this therapeutic method is beneficial to the treatment and prognosis of infants with CMV infection ICH.