ALFA-1 ANTITRYPSIN DEFICIENCY: A CASE REPORT

H. OZKAN, H. ERDAL, G. KABACAM, M. YAKUT

Ankara University, Ankara, TURKEY

Introductıon. Alpha 1antitrypsin is the most abundant circulating protease inhibitor and is synthesized primarily in the hepatocytes. Its inheritance is autosomal recessive. It is the main etiological factor of early onset pulmonary emphysema, juvenile hepatic cirrhosis and panniculitis. The relation between this glycoprotein enzyme inhibitor deficiency and elderly cirrhosis has shown during the course of this study.

Case. A 34-years-old male patient was referred to our clinic with complaints of epigastric pain, meteorism and dyspnea. There was no history of alcohol consumption. At the physical examination, there was scleral jaundice, spleen was palpable 12 cm under the costal arch. At the respiratory system, expiration was prolonged and ronchi were detected bilaterally at the lower zones. In the laboratory investigation, total bilirubin 1.7 mg/dl (N<1.1) direct bilirubin 0.94 mg/dl (N<0.3), AST 63 IU/L (N<37), ALT 49 IU/L (N<41), ALP 187 IU/L (40-129), GGT 104 IU/L (8-61) Hb:13.9 g/dl Leukocyte: 5000 /μL, platelet:101000 /μL, prothrombin time 14.4 sec and INR was detected to be 1.21. Abdominal ultrasonography has shown increased liver echogenicity and nodularity as well as splenomegaly and massive ascites in the favor of chronic liver parenchymal disease. Upper gastrointestinal endoscopy revealed F2 esophageal varices. Hepatitis serology and autoimmune panel of antinuclear antibodies (ANA), Anti-ds DNA, AMA, ASMA, Antineutrophil cytoplasmic antibodies (ANCA) and liver spesific antibodies were all negative. Serum protein electrophoresis showed hypoalbuminemia which is 35.6 % (N=55.1-65.2), and hypergammaglobulinemia of 40.5 % (N=11.1-21.6). Serum seruloplasmin level 32.9 mg/dl (N=20-60), copper level 147 mcg/dl (N=80-155), and 24 hours urine copper level 18.5 mcg/24 hr which were al normal. Main finding was serum alfa1-antitrypsin level which was 0.26 (N=1.4-3.2). And also we found PI genotype ZZ (homozygot) in our patient. The patient was diagnosed to be COPD 15 years ago. Portal system MR Angiography has shown no trombosis in portal system. Liver biopsy has shown that hepatocyte cytoplasma had PAS+, DPAS resistant globules relevant with alpha-1 antitrypsin deficiency.

Dıscussıon. Alpha-1 antitrypsin is encoded in PIM genes on the long arm of chromosome 14. Alpha 1 antitrypsin deficiency is defined with serum antitrypsin level and/or defective genotype. While clinical significant liver disease only occurs with PiZZ, clinical signicant lung disease only occurs with Pi Null, Pi SZ and Pi ZZ genotype. In patient with the ZZ variant, alpha-1 antitrypsin proteins have a substituon of lysine for glutamic acid at position 342 of the amino acid sequence. Tertiary structure of molecule is abnormal. Patients with genotypes ZZ have anti proteolytic activity against to neutrophil elastase which the most important substrate 5 times less than normal alpha-1 antitrypsin. Alpha 1 antitrypsin deficient patients improve liver fibrosis and cirrhosis high risk. In treatment alpha 1 antitrypsin replacement and liver transplantation when occurs end stage organ disfunction. As a result, in the research to find etiology of liver cirrhosis alpha1 antitrpsin deficiency should be considered in etiology, especially in a patient with long – standing respiratory complaints like emphysema.

AUTOLOGOUS BREAST RECONSTRUCTION: INDICATIONS AND POSSIBILITIES IN THE UDINE’S PLASTIC SURGERY EXPERIENCE

P.C. PARODI, F. DELL’ANTONIA, L. LAZZARO, M. FRANCESCON, S. CRACCO, G. SEMPRINI

Department of Experimental And Clinical Medicine; Plastic and Reconstructive Surgery Clinical Department, Udine University; Udine, ITALY

The aim of post-mastectomy breast reconstruction is to give back to the patient a breast, that is as similar as possible to the contralateral in terms of size, shape and position. Reconstruction with autologous tissue is the gold standard in young women with long life expectancy, in patients with ptotic breast, overweight or obese women and in those previously treated with radiotherapy.

The surgical techniques used in breast reconstruction include autologous flaps, implants or a combination of both. In the last year has increased the use of autologous flaps, pedicled or free, because this technique allows a reconstruction of good quality, very similar to the contralateral breast, in static and dynamic positions.

In this paper, the Authors analyzed 15 years of immediate and delayed breast reconstruction performed at their Clinic. In most cases the reconstruction was performed with implant or expander, because it was safer and faster, but more often they put indication for autologous reconstruction alone (TRAM flap, DIEP) or in combination with implants (latissimus dorsi muscle flap). These techniques allow individualizing the reconstruction, according to clinical characteristics, desires, and stage of disease of the patients.

The Authors present their clinical experience, proposing a reconstruction algorithm, with

indications, risks and benefits of each technique, in order to offer the most appropriate treatment to each patient.

Date: 2014-12-28; view: 659