Lege Artis Medicinae

[The role of the family physician in the preparation for liver transplantation in Wilson’s disease]

FARKAS Anett, KALABAY László, MÁTHÉ Zoltán, MÁRKUS Bernadett, SZALAY Ferenc, VÖRÖS Krisztián, TORZSA Péter

DECEMBER 18, 2016

Lege Artis Medicinae - 2016;26(11-12)

[Wilson’s disease is an autosomal recessive disease with toxic copper accumulation caused by the mutation of the ATP7B gene in chromosome 13. The estimated prevalence of the disease is 2-3 / 100000. Early diagnosis is important because the treatment may stop the progression and could result regression or it can prevent the clinical manifestation of the disease. In our case study we describe how difficult could be to diagnose the disease, the role of the family physician in the preparation for liver transplantation and in the follow-up care. This case is an example demonstrating that Wilson's disease is often diagnosed only years after the appearance of the first symptom. We review the most important literature data on Wilson’s disease. ]

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Hungarian Radiology

[Self-expanding metallic stents in intrahepatic biliary strictures after liver transplantation]

DOROS Attila, NÉMETH Andrea, HARTMANN Erika, DEÁK Pál Ákos, JUHAROSI Gyöngyi, LÉNÁRD Zsuzsa, KOZMA Veronika, GÖRÖG Dénes, GERLEI Zsuzsa, FEHÉRVÁRI Imre, NEMES Balázs, KÓBORI László

[INTRODUCTION - Bile duct complications remain a key problem of liver transplantation. Two main types are recognized: anastomotic and intrahepatic. In cases of anastomotic strictures good results can be achieved with surgery or minimally invasive therapy. Intrahepatic stenosis usually requires retransplantation. In this report the results of intrahepatic metallic stent placements are analyzed. PATIENTS AND METHODS - Since 1995, 20 patients with intrahepatic bile strictures were referred for percutaneous treatment. Of 34 percutaneous transhepatic cholangiography, 33 successful drainages were performed and 58 balloon dilatations were employed to overcome. In 13 patients, 20 metallic stents were implanted. One bleeding complication was successfully treated with selective embolization. RESULTS - The average follow up time was 35 months. 14 patients have no symptoms, 12 of them after metallic stent placements and 4 of them after retransplantation (2 patients had metallic stents at retransplantation). One patient has metallic stent and an external drain waiting for retransplantation. Three patients died after 7 retransplantations. Two patients died on the waiting list, one with and one without external drain. There were no deaths after successful metallic stent placement. CONCLUSION - After meticulous preparations metallic stent placement is safe and effective in intrahepatic biliary stenosis after liver transplantation. The patients can be stabilized till the retransplantation, or it can even be avoided.]

Lege Artis Medicinae

[The role and scope of screening and diagnosing obstructive sleep apnea syndrome by the family physician]

ANNUS János Kristóf, ÁDÁM Ágnes, BECZE Ádám, CSATLÓS Dalma, LÁSZLÓ Andrea, KALABAY László, SZAKÁCS ZOLTÁN

[Diagnosis and treatment of sleep disorders play an increasingly important role in everyday clinical practice of family physicians. Obstructive sleep apnea syndrome (OSAS) is a significant disorder of this disease group due to its relatively high incidence rate and increasing risk of adverse medical outcomes in the course of time. The prevalence of OSAS is 2-4% in the general population. It is characterized by obstructive apneas and hypopneas mostly with desaturations and/or arousals caused by the repetitive collapse of the upper airway during sleep. Besides impairing sleep efficacy and daytime neurocognitive functions, OSAS increases cardiovascular risk as well. The typical clinical presentation is an excessive daytime sleepiness and loud snoring interrupted by brief pauses of breathing. It can be a risk factor for treatment-resistant and/or non-dipper hypertension, nocturnal cardiac arrhythmias, stroke, cognitive decline and depression. The importance of OSAS is presented by the fact that - according to the latest related Hungarian law reforms - risk evaluation of the disorder is part of the medical assessment of suitability for a driving license. The family physician’s tasks are to recognize the clinical symptoms, identify high-risk patients with potential complications who need adequate treatment and eventually guide them to sleep-diagnostic centers. ]

Lege Artis Medicinae

[Drug treatment possibilities in chronic liver diseases]

HAGYMÁSI Krisztina, LENGYEL Gabriella, FEHÉR János

[Alcoholic and drug induced liver diseases, nonalcoholic steatohepatitis, hepatitis C and B chronic hepatitis, autoimmune diseases (primary biliary cirrhosis, primary sclerosing cholangitis, autoimmune hepatitis) and metabolic disorders (hemochromatosis, Wilson's disease) are the main chronic liver diseases. Authors summarize, based on the latest literature data, the medications of chronic liver diseases, emphasizing the treatment of the everyday practice. Natural and synthetic antioxidants are approved for the treatment of chronic alcoholic liver diseases besides abstinence, with diet of adequate quality and quantity. Nucleoside analogues (lamivudin) are recommended for the first-line therapy of the treatment of chronic hepatitis B. Interferon is presently considered the optimal treatment for only certain patients. Interferon and ribavirin combined therapy is well-established in the treatment of chronic hepatitis C. Ursodeoxycholic acid is the beneficial treatment option for primary biliary cirrhosis and primary sclerosing cholangitis. Prednisolon and azathioprine constitute the basic therapy of autoimmune hepatitis. Presumably, in the future, new strategies based on immunosuppressive combinations will play a crucial role. The chelating deferoxamine has less important part in the treatment of hemochromatosis. D-penicillamine still plays principle role in the medication of Wilson's disease.]

Lege Artis Medicinae

[Rare genetic disease of copper metabolism]

SZILI Károly, VANYA Melinda, MÁGORI Krisztina, LAJOS György

[INTRODUCTION - Wilson’s disease is a rare genetic disease of copper metabolism. Nearly, 300 patients in Hungary suffering from Wilson’s disease CASE - 25-year-old male patients were examined because of because speech impairment and ocular symptoms. The increase in blood copper and ceruloplasmin and point mutations in the ATP7B proven confirmed the diagnosis of Wilson’s disease. DISCUSSION - In diagnosis of rare disease is not easy because of the variety of symptoms and the high costs of genetic testing, we would like to draw the attention to it.]

Hungarian Radiology

[Balloon dilatation and metallic stent placement in inferior vena cava stenosis complicating liver transplantation]

DOROS Attila, NÉMETH Andrea, HARTMANN Erika, DEÁK Pál Ákos, FEHÉRVÁRI Imre, TÓTH Szabolcs, NEMES Balázs, KÓBORI László

[INTRODUCTION - The only successful therapy for end stage liver cirrhosis is liver transplantation. The anastomotic stenosis of the inferior vena cava is rare but serious complication. In these cases surgery is a high risk procedure; therefore interventional radiological methods are recommended. PATIENTS AND METHODS - Eleven patients developed 12 caval stenosis from 365 liver transplant recipients in Budapest. One of the patients had caval stenosis again after retransplantation. Dilatation was performed with 10- 25 mm large balloon catheters in 6 cases and 6 metallic stents (12-24 mm in diameter) were implanted. All the procedures were performed via the common femoral vein. RESULTS - The success of the intervention was measured by the morphological results, clinical signs and by the changes of superior-inferior vena cava pressure gradients. Before the intervention 14 Hgmm mean pressure gradient was measured, which decreased to 8 Hgmm post intervention. Eleven patients developed renal insufficiency before treatment; this was reversible in 6 cases. One patient had impaired renal function before treatment, and later on again, after retransplantation. Three of 4 patients with renal insufficiency died in the post operative period. One stent migration was noticed prompting surgical fixation of the stent. CONCLUSION - Inferior vena cava stenosis represents a serious complication after liver transplantation, causing ascites, hydrothorax and venous congestion in the kidneys and the liver. In the critical post operative period surgery is not recommended, risking the viability of the liver and the life of the patient. Interventional radiology with balloon dilatation and stent implantation is the method of choice in these cases, primary stenting with large self expanding metallic stents is necessary in elastic stenosis caused by torsion of the anastomosis.]