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Bucharest 2015 Slide 2 TITANIC 11april 1912 Slide 3 Slide 4 Adult cystic fibrosis care Complex Challenging Rewarding Exciting times in CF Slide 5 Burgel et al. Eur Respir J. 2015 Mar 18. pii: ERJ-01963-2014. (Epub ahead of print) PREVALENCE Slide 6 CUH POPULATION Slide 7 Plant et al. Lancet Resp Med 2013 Slide 8 Born 1990Predicted Median survival > 40 years Elborn et al. Thorax 1991 Born 2000Predicted Median survival > 50 years Dodge et al. ERJ 2007 Today it is the expectation that a child born with CF will survive to become an adult. Cuh Ireland + Fleming C et al. 2014 14% Slide 9 Life is a transition Slide 10 Kidney disease cancers Mental health Slide 11 Slide 12 Slide 13 Plant et al. Lancet Resp Med 2013 in press Slide 14 Slide 15 Massive Hemoptosis- 1.8% of all adults Increases with age Increases with worse Lung function Flume, P. A. et al. Chest 2005;128:729-738 Slide 16 Massive haemoptysis Conservative Stop nebulized medication Intravenous antibiotics Transexamic acid Vitamin k Bronchial artery embolization Slide 17 Poor prognosis Prognosis worsens With poorer Lung function Pneumothorax - 1.4% of all adults Flume, P. A. et al. Chest 2005;128:720-728 Slide 18 Treatment lung disease Slide 19 physiotherapy Autogenic drainageDevices used to aid physio Slide 20 Intravenous antibiotics (inpatient or home IV) CEFTAZADIME AND TOBRAMYCIN MEROPENAM CEFTAZADIME AND TOBRAMICIN MEROPENAM CEFTAZADIME TOBRAMYCIN CASPOFUNGIN MANY MORE COMBINATIONS Slide 21 Type of venous access Slide 22 Ear nose throat Slide 23 pancreatitis GERD, Oesophagitis, Barrets Oesophagus Gastrointestinal Slide 24 Absence of Oxalobacter formigenes in cystic fibrosis patients: a risk factor for hyperoxaluria. Lancet 1998; 352: 1026-9. 43 paediatric CF patients; 21 healthy volunteers ( Micro-vascular disease with CFRD.. 1990-2005 775 aged >6 years No subjects without fasting hyperglycemia (FH) had retinopathy or abnormal U alb:cr All subjects with CFRD >14years developed FH FH 10years: 14% Microalbumin 16% Retinopathy Microvascular Complications in Cystic Fibrosis-Related Diabetes. Schwarzenberg SJ et al. Diabetes Care 2007 Slide 30 Slide 31 Acute kidney injury Aminoglycosides NSAID toxicity Heat exhaustion Nephritis Chronic kidney disease Nephrocalcinosis Kidney stones IgA nephropathy Renal amyloidosis Nodular glomerulosclerosisis Slide 32 Slide 33 Nifiedine which is a calcium channel blocker, rapidly lowers blood pressure and open up the smaller capillaries Bosentan 62.5 and increased to 125 mgs in an effort to improve his digital ulceration Sildenafil-(Viagra) 20 mgs 8hrly GTN Patches I/V Iloprost-(Prostacycline)- aim to widen blood vessels for a few months Right palmar sympathectomy in December 2010. Blood vessels were found to be highly calcified Slide 34 Bloods for Liver disease on annual review 5% of adults have cirrhosis 1-2 yearly Liver ultrasound Referral to Liver specialist varices portal hypertension Liver transplant Slide 35 Severe genotype Pancreatic insufficiency Dehydration Poorly controlled fat malabsorption History of meconium ileus History of Dios Post organ transplant (10- 20%) CF related diabetes Constipation Appendicitis Appendicular mass Mucocele of the appendix Intussusception Crohns disease Adhesions Volvulus Fibrosing colonopathy Malignancy Risk factorsDifferential diagnosis Slide 36 Risk Factors: Previous DIOS / Homozygosity for DF508 SIR did not vary with age SIR higher in males versus females (8.4 vs. 46) J Natl Cancer Inst 2013;105:122-129 344,114 patient-years Slide 37 Cancers in CUH Slide 38 Osteopenia - Osteoporosis Treatment- vitamin D calcium vit k -nutrition Exercise -Bisphosphonate Sex hormone treatment ( if sex steriod Deficiency is suspected) Slide 39 Contraception safe sex female pregnancy male semen anyalisis Genetic testing for partners Options available to them Slide 40 The majority of CF females can become pregnant naturally Abnormally thick cervical mucus can be a problem Ill health, malnutrition, irregular or absent periods can affect fertility and age Slide 41 pregnancy Slide 42 97% of CF males have an anatomical defect congenital bilateral absence of the Vas Deferens (CBAVD) This causes obstructive azoospermia These men cannot reproduce without ICSI Slide 43 What is Preimplantation Genetic Diagnosis? Selection of: Genetically normal or carrier embryos from couples with known inherited mutations Aim: To transfer an embryo that will develop into a healthy child Couples: May be fertile Diagnosis: Specific Undiagnosed embryos never transferred Ethics / controversy: Not allowed in some countries Male adult cf f508/f508 Partner G551d/- pre-implantation Daughter Slide 44 Compliance with therapy Is long term doesnt go away Slide 45 When to refer for assessment? Fev1