glycogen and Urinary-Bladder--Neurogenic

In late-onset Pompe disease (LOPD), a lysosomal storage disorder with glycogen accumulation in several tissues, patients suffer from progressive skeletal muscle weakness. Lower urinary tract symptoms (LUTS) have rarely been reported. The aim of this study is to objectively assess LUTS in patients with LOPD for the first time using urodynamic studies and to determine differences between LOPD patients with and without LUTS.. Eighteen patients with LOPD were recruited, of whom seven patients (38.9%) reported LUTS (both voiding and storage symptoms). Six of these patients underwent urodynamic studies. Medical histories and motor function tests were compared between the 7 patients with LUTS and the 11 patients without LUTS. The Student t test was used to determine an association between the two cohorts.. In the seven LOPD patients with LUTS urodynamics revealed neurogenic dysfunction, underactive detrusor, and bladder outlet obstruction. These patients had suffered from clinical symptoms for a longer period of time before starting enzyme replacement therapy (P = .017) than patients without LUTS. They also scored more poorly on muscle function tests. Urodynamic results point to neurogenic causes for LUTS in LOPD, that is, neurogenic reflex bladder or impaired filling sensation. This could be due to glycogen accumulation in the urothelium and central nervous system. Patients with LUTS also seem to be more severely affected by LOPD than patients without LUTS.. LUTS in LOPD requires early and specific treatment to limit the development of severe health problems. Urodynamic studies should be considered in assessing LUTS.

Topics: Aged; Cohort Studies; Enzyme Replacement Therapy; Female; Glycogen; Glycogen Storage Disease Type II; Humans; Lower Urinary Tract Symptoms; Male; Middle Aged; Muscle, Skeletal; Neurologic Examination; Surveys and Questionnaires; Urinary Bladder, Neurogenic; Urinary Bladder, Underactive; Urodynamics; Urothelium

The glycogenolysis markers (glycogen content, active and total glycogen phosphorylase [EC 2.4.1.1.] activities, and active and total acid exo-alpha-1,4-glucosidase [EC 3.2.1.3.] activities) in the urinary bladder muscle from two patients with stress urinary incontinence and concomitant detrusor instability were studied. Glycogen depletion and activation of glycogen phosphorylase were found.

Topics: Female; Glucan 1,4-alpha-Glucosidase; Glycogen; Humans; Phosphorylases; Urinary Bladder; Urinary Bladder, Neurogenic; Urinary Incontinence, Stress

Topics: Bacteriuria; Blood Glucose; Diabetic Nephropathies; Glomerular Filtration Rate; Glycogen; Glycosuria, Renal; Growth Hormone; Humans; Hypertension, Renal; Insulin; Kidney; Kidney Tubules; Proteinuria; Urinary Bladder, Neurogenic; Urinary Tract Infections; Urination Disorders

Topics: Animals; Blood Urea Nitrogen; Dogs; Female; Glycogen; Hypertrophy; Male; Muscles; Urinary Bladder; Urinary Bladder, Neurogenic

Topics: Animals; Cordotomy; Dogs; Female; Glycogen; Humans; Liver; Male; Muscle Denervation; Muscle, Smooth; Muscles; Urinary Bladder; Urinary Bladder, Neurogenic; Urinary Diversion

Topics: Animals; Cordotomy; Dogs; Female; Glycogen; Histocytochemistry; Male; Muscle Contraction; Muscle Denervation; Muscle, Smooth; Urinary Bladder; Urinary Bladder, Neurogenic