Journal article
Urologic and gastrointestinal symptoms in the dystroglycanopathies
Neurology, Vol.84(5), pp.532-539
02/03/2015
DOI: 10.1212/WNL.0000000000001213
PMCID: PMC4336067
PMID: 25568299
Abstract
To determine the frequency of urologic and gastrointestinal (GI) symptoms in a cohort of individuals with dystroglycanopathy compared with healthy household controls.
Participants in a North American dystroglycanopathy natural history study (NCT00313677) and other members of their households completed a questionnaire modified from validated instruments and clinical criteria. Urologic and GI symptom frequency, effect on patient life, and medications taken for these symptoms were assessed. Those younger than 4 years or not toilet trained were excluded. Healthy human bladder, esophagus, and duodenum from surgical specimens were immunostained for glycosylated α-dystroglycan.
Thirty of 58 potential participants with dystroglycanopathy (51.7%) and 16 household controls participated. Subjects were aged 6 to 51 years (mean 26.7); 60.0% were female. Controls were aged 7 to 55 years (mean 34.6); 56.3% were female. The dystroglycanopathy cohort had higher frequency of urinary voiding symptoms (p = 0.02), higher urologic symptom scores (p = 0.05), and higher dysphagia symptom scores (p = 0.04). A correlation existed between urologic symptom score and effect on life (r = 0.71; 95% confidence interval 0.46, 0.85; p < 0.0001) and between dysphagia symptom score and effect on life (r = 0.72; 95% confidence interval 0.48, 0.86; p < 0.0001). Glycosylated α-dystroglycan was present in visceral smooth muscle of all normal tissues analyzed.
Urologic symptoms and dysphagia are reported more frequently by individuals with dystroglycanopathies than by household controls. These symptoms can cause a perceived negative effect on patient life. Our results suggest urologic and GI dysfunction may be part of the dystroglycanopathy phenotype, and that questions about these symptoms should be incorporated into routine care because they may influence medical management.
Details
- Title: Subtitle
- Urologic and gastrointestinal symptoms in the dystroglycanopathies
- Creators
- Cameron D Crockett - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City. cameron-crockett@uiowa.eduLaura A Bertrand - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa CityChristopher S Cooper - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa CityRiad M Rahhal - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa CityKe Liu - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa CityM Bridget Zimmerman - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa CitySteven A Moore - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa CityKatherine D Mathews - From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.84(5), pp.532-539
- DOI
- 10.1212/WNL.0000000000001213
- PMID
- 25568299
- PMCID
- PMC4336067
- NLM abbreviation
- Neurology
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Publisher
- United States
- Grant note
- UH2 AT007784-01 / NCCIH NIH HHS U54 NS053672. / NINDS NIH HHS U54 NS053672 / NINDS NIH HHS R01 CA149033-04 / NCI NIH HHS 5884HP33 / PHS HHS DD000189 / NCBDD CDC HHS P01 HL049692 / NHLBI NIH HHS PC30CA086862 / NCI NIH HHS UL1 RR524979-05 / NCRR NIH HHS
- Language
- English
- Date published
- 02/03/2015
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Pathology; Iowa Neuroscience Institute; Biostatistics; Gastroenterology, Hepatology, Pancreatology, and Nutrition; Neurology (Pediatrics); Urology; Medicine Administration
- Record Identifier
- 9983997455402771
Metrics
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