Cholestasis is the inability to excrete bilirubin and ends in a conjugated hyperbilirubinemia and jaundice. There are numerous causes that either the laboratory, with a liver CT and sometimes are distinguished by surgery or a liver biopsy can. Treatment depends on the cause.
Cholestasis is the inability to excrete bilirubin and ends in a conjugated hyperbilirubinemia and jaundice. There are numerous causes that either the laboratory, with a liver CT and sometimes are distinguished by surgery or a liver biopsy can. Treatment depends on the cause. The etiology cholestasis (jaundice) can be intra- or extrahepatic or caused by both. The most common extrahepatic biliary atresia extrahepatic cause is. Biliary atresia is a closure of the bile ducts through a progressive sclerosis of the common bile duct. In most cases, biliary atresia is manifested several weeks after birth, probably as a result of inflammation or scarring of the extrahepatic (and sometimes intrahepatic) bile ducts. Rarely it is found in premature babies or newborns at birth. The cause of the inflammation is unknown but an infectious etiology is diskutiert.Intrahepatisch intrahepatic causes are infectious, alloimmune, be metabolically / Genetic or toxic. Infections can cause cholestasis. Infections can viral (eg. As herpes simplex virus, cytomegalovirus, rubella overview of infections of the newborn), bacterial (eg. As Gram-positive and Gram-negative bacteremia caused by Escherichia coli HWI urinary tract infections (UTI) be in children) or parasitic (z. B. toxoplasmosis Congenital toxoplasmosis). Sepsis in neonates (sepsis in newborns) obtained parental nutrition can also cause cholestasis. The gestational Alloimmunleberkrankheit concerns the transplacental passage of maternal IgG that initiates a complement-mediated membrane attack complex, which violated the fetal liver. Among the metabolic causes include several inborn errors of metabolism (Inborn errors of metabolism) as galactosemia, tyrosinemia, alpha 1-antitrypsin deficiency, disorders of lipid metabolism, mitochondrial disorders and fatty acid oxidation defects. Genetic defects include Alagille syndrome, cystic fibrosis and arthrogryposis-renal dysfunction-Cholestase- (ARC) syndrome. There are also a number of gene mutations that affect the normal bile production and excretion and cause cholestasis; the resulting disease is called progressive familial intrahepatic cholestasis. Toxic causes occur mainly due to the use of longer parenteral nutrition for extremely premature infants or those with short bowel syndrome (short bowel syndrome). Idiopathic Neonatal Hepatitis syndrome (giant cell hepatitis) is an inflammatory reaction of the neonatal liver. Its incidence has decreased and it is becoming increasingly rare because improved diagnostic tests allow the identification of specific causes of cholestasis. Pathophysiology of cholestasis no bilirubin can be excreted primarily. This leads to increased conjugated bilirubin in the blood and reduced bile salts in the gastrointestinal tract. As a consequence of reduced bile salts, fats and less absorbed with them fat-soluble vitamins (A, D, E and K). This leads to vitamin deficiencies, inadequate nutrition and growth inhibition. Symptoms and complaints The cholestasis is usually noticed in the first 2 weeks of life. The infants are yellow and often have a dark urine through contained conjugated bilirubin, acholic chairs and a swelling of the liver. Keeps the cholestasis to frequently occur itching and symptoms as well as signs of a vitamin deficiency, in continuation of the growth curve may drop. If the cause leads to liver fibrosis and cirrhosis, portal hypertension with a Bauchauftreitung capable by esophageal varices due to ascites, dilated veins of the abdominal wall and gastrointestinal bleeding. Diagnosis Total and direct Bilirubintests liver function tests for metabolic, infectious and genetic causes liver ultrasound liver examination Occasionally biopsy of the liver or other tissue (eg. As lip), operative cholangiography or genetic testing every infant who has jaundice after 2 weeks of age, should be investigated for cholestasis. The diagnosis should initially focus on treatable conditions such. B. extrahepatic biliary atresia, wherein an earlier surgery improves the short-term result. Cholestasis is identified by an increase in both the total and direct bilirubin. Among the tests that are required to assess liver function further include albumin, fractionated serum bilirubin, liver enzymes, PT / PTT and ammonia levels. Once cholestasis is confirmed, an investigation is required to the etiology (see Table: diagnosis for neonatal cholestasis) and evidence of malabsorption (e.g., low levels of fat soluble vitamins E, A and D.) To be determined. Diagnosis for neonatal cholestasis etiology procedure liver dysfunction albumin, ammonia, PT / PTT, AST, ALT, GGT, bilirubin (total and direct) infections urine cultures TORCH titers endocrinopathy TSH, thyroxine Cystic Fibrosis Sweat Chloride Test Galactosemia newborn screening, reducing substances (eg. B. galactose) in urine ?1-antitrypsin deficiency, serum levels of ?1-antitrypsin, ?1-phenotype antitrypsin test Genetic error of bile acid synthesis bile acid in urine and serum genetic testing Inborn errors of metabolism urine organic acids, ammonia, serum, serum electrolytes Alloimmunleberkrankheit Alpha-1-antitrypsin, ferritin, lipid profile, iron in the tissues, as determined by either lip or liver, liver histology GGT = ?-glutamyl; TORCH = toxoplasmosis and other pathogens, rubella, cytomegalovirus and herpes simplex; TSH = thyroid-stimulating hormone. An abdominal ultrasound is often the first test; it is non-invasive and can assess the liver size and certain abnormalities of the gallbladder and bile duct. However, it is non-specific. A liver computed tomography should be performed, contrast agents in the gut excludes biliary atresia, but a lack of precipitation can also occur in both the biliary atresia, the giant cell hepatitis and other causes of cholestasis. If no diagnosis was made, a liver biopsy is performed, sometimes with operative cholangiography early. Patients with biliary atresia a show an enlarged portal triad, bile duct proliferation and increased fibrosis. The neonatal hepatitis is characterized by the occurring in the liver lobules, multinucleated giant cells. The Alloimmunlebererkrankung is characterized by increased hepatic iron stores (increased iron can also be detected with a lip biopsy if a liver biopsy is not otherwise required). Prognosis The biliary atresia proceeds leads if left untreated to liver failure and cirrhosis with portal hypertension and after a few months to a fatal outcome at the age of one year. A forecast of cholestasis by specific diseases (z. B. metabolic disorders) is variable and ranges from a totally benign course to a progressive disease leading to cirrhosis. Idiopathic neonatal hepatitis is slowly getting better, but the continuous deterioration of the liver can lead to liver failure and death. The Alloimmunlebererkrankung has a poor prognosis without early intervention. Treatment Treatment of the specific cause of vitamin A, D, E, K and additions Medium chain triglycerides Sometimes ursodeoxycholic The specific treatment depends on the cause. If there is no specific treatment, the treatment is supportive and preferably consists of a nutritional therapy with vitamin supplements (A, D, E and K). With synthetic baby formula-fed infants should receive preparations with medium-fats are better absorbed in the absence of bile salts. is adequate caloric intake to respect (> 130 cal / kg / day). In infants with a low flow of bile ursodeoxycholic acid can relieve (10-15 mg / kg / day or 2 times a day) the itching. Infants with suspected biliary atresia require surgical intervention with an intraoperative cholangiography. If the biliary atresia confirmed a Portoenterostomie must (Kasai operation) – to be carried out – ideally in the first 2 months of life. After this period, the short-term prognosis is getting worse. Postoperatively, many patients have chronic problems with persistent cholestasis of ascending cholangitis and growth difficulties. Despite optimal treatment, most babies develop cirrhosis and require a liver transplant. Because the Alloimmunlebererkrankung has no definitive markers and / or test, treatment with IVIG or exchange transfusion should be considered early to reverse the ongoing liver damage if no definite diagnosis was made. Key points There are numerous congenital and acquired causes of neonatal cholestasis, which lead to failure of the of bilirubin and excess conjugated bilirubin. Neonatal cholestasis is typically observed during the first 2 weeks of life; the infants have jaundice and often dark urine, acholic chairs and hepatomegaly. We begin with laboratory tests of liver function, ultrasound and hepatobiliary scan and cause tests are performed, sometimes including liver biopsy. The specific cause is treated and supportive care is given, including supplements of fat-soluble vitamins and a formula that is rich in medium-chain triglycerides and contains enough calories.