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Clinical Manifestations of Cystic Fibrosis Among Patients With Diagnosis in Adulthood^*

^* From the Department of Respiratory Medicine and Allergology, Sahlgrenska University Hospital (Dr. Gilljam), Goteborg University, Goteborg, Sweden; Department of Pediatrics (Ms. Ellis and Dr. Durie) and Research Institute (Drs. Zielenski and Durie), Program of Population Health Science (Dr. Corey), Hospital for Sick Children, Adult CF Program, St Michael’s Hospital, Departments of Medicine and Pediatrics (Dr. Tullis), University of Toronto, Toronto, ON, Canada.

Correspondence to: D. Elizabeth Tullis, MD, FCCP, Room 6–045, Bond Wing, St Michael’s Hospital, 30 Bond St, Toronto, ON, M5B 1W8, Canada; e-mail: tullise{at}smh.toronto.on.ca

Objective: To define the clinical characteristics and diagnostic parameters of patients with cystic fibrosis (CF) diagnosed in adulthood.

Design: Retrospective cohort study.

Setting: Tertiary care center.

Patients and methods: All patients with a diagnosis of CF made at the Toronto CF Clinics between 1960 and June 2001. Data were collected prospectively and analyzed retrospectively.

Results: There were 73 of 1,051 patients (7%) with CF diagnosed in adulthood. Over time, an increasing number and proportion of patients received a diagnosis in adulthood: 27 patients (3%) before 1990, compared to 46 patients (18%) after 1990 (p < 0.001). The mean sweat chloride level was lower for those with CF diagnosed as adults, compared to those with a diagnosis as children (75 ± 26 mmol/L and 100 ± 19 mmol/L, respectively; p < 0.001) [mean ± SD], and adults were more likely to have pancreatic sufficiency (PS) than children (73% vs 13%, respectively; p < 0.0001). In 46 adults who received a diagnosis since 1990, the reason for the initial sweat test was pancreatitis (2 patients, 4%), pulmonary symptoms (18 patients, 39%), pulmonary and GI symptoms (10 patients, 22%), infertility (12 patients, 26%), and genetic screening (4 patients, 9%). Other manifestations were biliary cirrhosis (one patient) and diabetes mellitus (four patients, 9%). The diagnosis could be confirmed by sweat test alone in 30 of 46 patients (65%), by mutation analysis alone in 15 patients (33%), and by a combination in 31 patients (67%). Nasal potential difference (PD) measurements alone confirmed the diagnosis in the remaining 15 patients (33%).

Conclusion: Patients with CF presenting in adulthood often have PS, inconclusive sweat test results, and a high prevalence of mutations that are not commonly seen in CF diagnosed in childhood. Although most patients have lung disease of variable degrees, single-organ manifestations such as congenital bilateral absence of the vas deferens and pancreatitis are seen. Repeated sweat tests and extensive mutation analysis are often required. Nasal PD may aid the diagnosis, but has not been standardized for clinical diagnosis.

Key Words: adult • cystic fibrosis • cystic fibrosis transmembrane conductance regulator • diagnosis • genotype • ion transport

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