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Binoy Nirmal,22yrs/M 07/11/11

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Provisional Diagnosis-Cystic lung Disease (from childhood) recurrent sinoBronchial Infection Fat Malabsorbtion ?cystic Fibrosis/CFTR mutation study pending Marfan syndrome
Final Diagnosis-Cystic Fibrosis(Recurrent URTI & LRTIs,Cystic Lung Disease & Exocrine pancreatic dysfn),CFTR pending
History and Findings-Final year MBBS student Karakkonam MCH TVM Recurrent fever,headache,sinus & throat infection,hyperactive airways,Br asthma,recurrent LRTIs,MVP,AF induced by terbutaline ,C4 cytoenia,Polymyalgia,Polyarthralgia since early childhood. Under wt-43kg,high arched ppalate,arm length-180cm Ht-169cm,Marfanoid features ++
Investigation-Hb-17g,ESR-2,Creat-1mg,A/g-4.9/3.2g,PT with INR-2.4,APTT-31.8,ACE-34.2,Cortisol-14.72,Stool fat +ve,OB Neg,Stool chymotripsin-11.5(N >13.2)TTg IgG(Tissue Transglutaminase IgG)-Neg,Quantiferon TB gold assay(Gamma Interferon)-Neg,Mantaeux-neg,BMFT-Normal,PFT-Mixed dysfn pattern with minimal reversibility,Cxr-Chest emphysematous,Pul conus prominent,PNS-Mucosal thickenning Max antra,TSH-1.8,FT4-1.9,Aspergilla IgG-Neg, CT Thorax-Minimal bronchiectatic changes B/l upper & loower lobes.IgG,IgM,IgA-Normal,Serum.Kappa,Lambda freE lite-N,ANA IFA-nEG,C-ANCA,P-ANCA-Neg,Rpt PT with INR(07/11/11)-1.05,APTT-31.9/32.2,S.Amylase-63.9,urine amylase-63.9,Serum Na-141,k-3.9,Cl-103,sweat Na-136.9(N <35)sweat Cl-112.2 (N <46),Vit A-22.9 (N 30-120),Vit D 23.18 (20-30 insufficiency),Echo-Normal chamber,trivial MR & TR
Treatment-Chest physiotherapy,steam inhalation Tab.Mucomix/Duolin & Budicorte Nebulization Cap.Eldervit ZC,Cap.Evion,Tab.Pancreon,Tab.Montelukast
Follow Up-With sputum culture both bacterial & fungal & CFTR mutation study
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