Inheritance: autosomal recessive Pathology:copper incorporation into caeruloplasmin in hepatocytes and and its excretion into bile is impaired so copper is deposited into organs (firstly liver, then basal ganglia) Clinical: - Presents in children with liver failure/jaundice - Presents in young adults with CNS signs e.g. ataxia, tremor, dysarthria - Eyes: kayser fleischer rings (gold ring around iris)
almostadoctor.com - free medical student revision notes
almost 8 years ago
An obese 63 year old lady presents with jaundice. There is no history of abdominal pain. Examination of her abdomen reveals a palpable gall bladder. There is evidence of extensive pruritis. She tells you she drinks 42 units of alcohol a week. Her blood results are as follows: Albumin 32 (35-50) Alk Phos 456 (<110) ALT 88 (<40) Bilirubin 120 (<20) INR 1.6 GGT 400 (0-70) What’s the most likely diagnosis? a. Gallstones b. Paracetamol Overdose c. Pancreatic cancer d. Alcoholic Hepatitis e. Primary billiary cirrhosis
almost 8 years ago
The registrar's face was taking on a testy look. So enduring was the silence our furtive glances had developed a nystagmic quality. “Galactosaemia” came her peremptory reply. Right on queue the disjointed chorus of ahs and head nods did little to hide our mental whiteboard of differentials being wiped clean. At the time conjugated bilirubinaemia in children only meant one thing: biliary atresia. A fair assumption; we were sitting in one of three specialist centres in the country equipped to treat these patients. Ironically the condition has become the unwieldy yardstick I now measure the incidence of paediatric disease. Biliary atresia is the most common surgical cause of neonatal jaundice with a reported incidence of 1 in 14-16ooo live births in the West. It is described as a progressive inflammatory obliteration of the extrahapatic bile duct. And Dr Charles West, the founder of Great Ormond Street Hospital, offers an eloquent description of the presenting triad of prolonged jaundice, pale acholic stools and dark yellow urine: ‘Case 18...It was born at full term, though small, apparently healthy. At 3 days however, it began to get yellow and at the end of 3 weeks was very yellow. Her motions at no time after the second day appeared natural on examination, but were white, like cream, and her urine was very high coloured.’ 1855 was the year of Dr West's hospital note. An almost universally fatal diagnosis and it would remain so for the next 100 years. The time's primordial classification of biliary atresia afforded children with the 'noncorrectable' type, a complete absence of patent extrahepatic bile duct, an unfortunate label; they were beyond saving. Having discovered the extent of disease at laparatomy, the surgeons would normally close the wound. The venerable Harvardian surgeon, Robert E. Gross saved an enigmatic observation: “In most instances death followed a downhill course…” K-A-S-A-I read the ward’s board. It was scrawled under half the children's names. I dismissed it as just another devilishly hard acronym to forget. The thought of an eponymous procedure had escaped me and in biliary atresia circles, it's the name everyone should know: Dr Morio Kasai. Originating from Aomori prefecture, Honshu, Japan, Dr Kasai graduated from the National Tohoku University School of Medicine in 1947. His ascension was rapid, having joined the 2nd department of Surgery as a general surgeon, he would assume the role of Assistant Professor in 1953. The department, under the tenure of Professor Shigetsugu Katsura, shared a healthy interest in research. 1955 was the landmark year. Katsura and Kasai operated on their first case: a 72 day old infant. Due to bleeding at the incised porta hepatis, Katsura is said to have 'placed' the duodenum over the site in order to staunch the flow. She made a spectacular postoperative recovery, the jaundice had faded and there was bile pigment in her stool. During the second case, Katsura elected to join the unopened duodenum to the porta hepatis. Sadly the patient's jaundice did not recover, but the post-mortem conducted by Kasai confirmed the development of a spontaneous internal biliary fistula connecting the internal hepatic ducts to the duodenum. Histological inspection of removed extrahepatic duct showed the existence of microscopic biliary channels, hundreds of microns in diameter. Kasai made a pivotal assertion: the transection of the fibrous cord of the obliterated duct must contain these channels before anastomosis with the jejunal limb Roux-en-Y loop. This would ensure communication between the porta hepatis and the intrahepatic biliary system. The operation, entitled hepatic portoenterostomy, was first performed as a planned procedure for the third case at Tohoku. Bile flow was restored and Kasai published the details of the new technique in the Japanese journal Shujutsu in 1959. However, news of this development did not dawn on the West until 1968 in the Journal of Pediatric Surgery. The success of the operation and its refined iterations were eventually recognized and adopted in the 1970s. The operation was and is not without its dangers. Cholangitis, portal hypertension, malnutrition and hepatopulmonary syndrome are the cardinal complications. While diagnosing and operating early (<8 weeks) are essential to the outcome, antibiotic prophylaxis and nutritional support are invaluable prognostic factors. Post operatively, the early clearance of jaundice (within 3 months) and absence of liver cirrhosis on biopsy, are promising signs. At UK centres the survival after a successful procedure is 80%. The concurrent development of liver transplantation boosts this percentage to 90%. Among children, biliary atresia is the commonest indication for transplantation; by five years post-Kasai, 45% will have undergone the procedure. On the 6th December 2008, Dr Kasai passed away. He was 86 years old and had been battling the complications of a stroke he suffered in 1999. His contemporaries and disciples paint a humble and colourful character. A keen skier and mountaineer, Dr Kasai lead the Tohoku University mountain-climbing team to the top of the Nyainquntanglha Mountains, the highest peaks of the Tibetan highlands. It was the first successful expedition of its kind in the world. He carried through this pioneering spirit into his professional life. Paediatric surgery was not a recognized specialty in Japan. By founding and chairing multiple associations including the Japanese Society of Pediatric Surgeons, Dr Kasai gave his specialty and biliary atresia, the attention it deserved. Despite numerous accolades of international acclaim for his contributions to paediatric surgery, Dr Kasai insisted his department refer to his operation as the hepatic portoenterostomy; the rest of the world paid its originator the respect of calling it the ‘Kasia’. Upon completion of their training, he would give each of his surgeons a hand-written form of the word ‘Soshin’ [simple mind], as he believed a modest surgeon was a good one. At 5 foot 2, Kasai cut a more diminutive figure one might expect for an Emeritus Professor and Hospital Director of a university hospital. During the course of his lifetime he had developed the procedure and lived to see its fruition. The Kasia remains the gold standard treatment for biliary atresia; it has been the shinning light for what Willis J. Potts called the darkest chapter in paediatric surgery. It earned Dr Kasai an affectionate but apt name among his peers, the small giant. References Miyano T. Morio Kasai, MD, 1922–2008. Pediatr Surg Int. 2009;25(4):307–308. Garcia A V, Cowles RA, Kato T, Hardy MA. Morio Kasai: a remarkable impact beyond the Kasai procedure. J Pediatr Surg. 2012;47(5):1023–1027. Mowat AP. Biliary atresia into the 21st century: A historical perspective. Hepatology. 1996;23(6):1693–1695. Ohi R. A history of the Kasai operation: Hepatic portoenterostomy for biliary atresia. World J Surg. 1988;12(6):871–874. Ohi R. Morio Kasai, MD 1922-2008. J Pediatr Surg. 2009;44(3):481–482. Lewis N, Millar A. Biliary atresia. Surg. 2007;25(7):291–294. This blog post is a reproduction of an article published in the Medical Student Newspaper, April 2014 issue.
almost 8 years ago
In newborn infants less than one week old, does oral zinc salt supplementation compared to placebo or no treatment decrease the incidence of hyperbilirubinaemia (jaundice)?
over 6 years ago
Hepatitis C is a disease of the liver caused by the hepatitis C virus (HCV) which spreads from person to person through blood contact which is a result of sharing drug needles, and other items contaminated with blood. This virus remains in the body for a long time and can affect the liver causing its slow destruction or cirrhosis and liver cancer. Infected people may have weakness, nausea, jaundice and lose weight. On blood tests they may have increase in liver enzymes and bilirubin.
over 6 years ago