title: Severe metabolic acidosis in adult patients with Duchenne muscular dystrophy.
abstract: Duchenne muscular dystrophy (DMD) leads to progressive paresis, respiratory failure and premature death. Long-term positive pressure ventilation can improve quality of life and survival, but previously unrecognized complications may arise. We analyzed the characteristics of severe metabolic acidosis occurring in 8 of 55 DMD patients, of 20-36 years of age, observed over a 5-year period. All patients were on positive pressure ventilation and were being treated for chronic constipation. Before admission, they had had a reduced intake of fluids and food. Upon examination, they were severely ill, dyspneic and suffering from abdominal discomfort. Metabolic acidosis with a high anion gap was noted in 5 of the 8 patients and with a normal anion gap in the other 3. They all recovered after the administration of fluids and nutrition, the regulation of bowel movements and treatment with antibiotics, as appropriate. Metabolic acidosis is a life-threatening, potentially preventable complication in older DMD patients. Early recognition, subsequent administration of fluids, nutrition and antibiotics and regulation of bowel movements seem to be essential.
authors.affiliation: Division of Pulmonology, Zurich University Hospital, Zurich, Switzerland.
authors.forename: Christian M
authors.initials: CM
authors.lastname: Lo Cascio
authors.forename: Tsogyal D
authors.initials: TD
authors.lastname: Latshang
authors.forename: Malcolm
authors.initials: M
authors.lastname: Kohler
authors.forename: Thomas
authors.initials: T
authors.lastname: Fehr
authors.forename: Konrad E
authors.initials: KE
authors.lastname: Bloch
mesh_terms: D000136:Acid-Base Equilibrium; D000138:Acidosis / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D000328:Adult; D002021:Buffers; D003248:Constipation / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D019468:Disease Management; D005260:Female; D006440:Hemofiltration / Q000379:methods; D006801:Humans; D054368:Laxatives / Q000008:administration & dosage / Q000009:adverse effects*; D008297:Male; D044342:Malnutrition / Q000150:complications / Q000209:etiology / Q000503:physiopathology; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000503:physiopathology / Q000523:psychology / Q000628:therapy; D011175:Positive-Pressure Respiration / Q000379:methods; D011788:Quality of Life; D012131:Respiratory Insufficiency / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D012141:Respiratory Tract Infections / Q000209:etiology / Q000503:physiopathology; D012720:Severity of Illness Index; D017693:Sodium Bicarbonate / Q000008:administration & dosage; D016896:Treatment Outcome
chemical_list: D002021:Buffers; D054368:Laxatives; D017693:Sodium Bicarbonate