RESUMO
INTRODUCTION AND IMPORTANCE: Patients with phenylketonuria (PKU) exhibit a high incidence of obesity. Currently, bariatric surgery remains the most effective long-term treatment for obese patients. However, limited data regarding the applicability of bariatric surgery to obese patients with PKU have been reported in the literature. CASE PRESENTATION: A case involving a young woman, in whom sleeve gastrectomy was performed to manage obesity that was resistant to conservative therapy, is presented herein. CLINICAL DISCUSSION: The present report is the first to describe sleeve gastrectomy in an obese patient with PKU. The surgery proceeded without complications. Furthermore, the patient's phenylalanine levels remained under control for the first 3 months after surgery, with no major neurological complications. The diet prescribed in the first few months after surgery is complex; nevertheless, it is feasible to follow if supervised by a dietary team specialised in rare metabolic diseases. CONCLUSION: Bariatric surgery in this patient with PKU did not result in any major complications. Surgery is feasible but it is important for the dietetic team involved to have expertise in PKU management.
RESUMO
BACKGROUND: Patients with cystic fibrosis (CF) and pancreatic insufficiency need pancreatic enzyme replacement therapy (PERT) for dietary lipids digestion. There is limited evidence for recommending the adequate PERT dose for every meal, and controlling steatorrhea remains a challenge. This study aimed to evaluate a new PERT dosing method supported by a self-management mobile-app. METHODS: Children with CF recruited from 6 European centres were instructed to use the app, including an algorithm for optimal PERT dosing based on in vitro digestion studies for every type of food. At baseline, a 24h self-selected diet was registered in the app, and usual PERT doses were taken by the patient. After 1 month, the same diet was followed, but PERT doses were indicated by the app. Change in faecal fat and coefficient of fat absorption (CFA) were determined. RESULTS: 58 patients (median age 8.1 years) participated. Baseline fat absorption was high: median CFA 96.9%, median 2.4g faecal fat). After intervention CFA did not significantly change, but range of PERT doses was reduced: interquartile ranges narrowing from 1447-3070 at baseline to 1783-2495 LU/g fat when using the app. Patients with a low baseline fat absorption (CFA<90%, n=12) experienced significant improvement in CFA after adhering to the recommended PERT dose (from 86.3 to 94.0%, p=0.031). CONCLUSION: the use of a novel evidence-based PERT dosing method, based on in vitro fat digestion studies incorporating food characteristics, was effective in increasing CFA in patients with poor baseline fat absorption and could safely be implemented in clinical practice.
