Журнал пульмонологии и респираторных заболеваний

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Diaphragmatic Paralysis in Portuguese Patients: Prevalence of Late-Onset Pompe Disease - DIPPER Research

Winck JC

Pompe complaint is a rare autosomal sheepish neuromuscular complaint caused by acid α- glycosidase enzyme (GAA) insufficiency and divided into two distinct variants, immature- and late- onset. The late- onset variant is characterized by a diapason of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/ or diaphragmatic palsy. Since muscle strength loss is characteristic of several different conditions, which may also beget diaphragmatic palsy, a protocol was created to search for the opinion of Pompe complaint and count other possible causes. Methods: We collected a sample size of 18 cases (10 ladies, 8 males) with a median age of 60 times and opinion of diaphragmatic palsy of unknown etiology, followed in the Pulmonology inpatient discussion of 9 centers in Portugal, over a 24- month study period. We estimated data from case's clinical and demographic characteristics as well as reciprocal individual tests including blood tests, imaging, neurophysiologic and respiratory function evaluation. All cases were estimated for GAA exertion with DBS (dried blood test) or serum quantification and positive results verified by serum quantification and sequencing. Results: Three cases were diagnosed with Pompe's complaint and recommended for enzyme relief remedy. The frequence of Pompe, a rare complaint, in our diaphragmatic palsy case sample was16.8. Conclusion: We conclude that DBS test for GAA exertion should be recommended for all cases with diaphragmatic palsy which, despite looking at all the most common causes, remains of unknown etiology; this would ameliorate both the timing and delicacy of opinion for Pompe complaint in this patient population. Accurate opinion will lead to bettered care for this rare, precipitously enervating but treatable neuromuscular complaint