ABSTRACT
The most common cause of death in patients with rapidly progressive neuromuscular disease has been respiratory failure. The medical community and society as a whole have not yet recognized the possibilities for markedly extended life expectancy and prolonged productivity in severely disabled neuromuscular patients with proper medical management and rehabilitation. In a population of 120 patients with early childhood onset, rapidly progressive muscular dystrophy, 29 were in the most advanced stage requiring mechanical ventilation 24 hr/day and had vital capacities of less than 10% predicted for age and height. Of these patients with severely weakened bulbar innervated muscles, 10 have been receiving positive pressure ventilation via indwelling tracheostomy tubes for an average of 3 years. The average age of the 29 patients is 27 years with a range of 15 to 54 years. Of the 29 patients, 24 live in the community. Three are married and have a total of 5 children. Some patients are in professional careers, or active in political and community organizations. The management of and potential for improved quality of life and increased longevity in these patients are discussed.
Subject(s)
Muscular Dystrophies/rehabilitation , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Muscular Dystrophies/physiopathology , Time Factors , Tracheotomy , Ventilators, Mechanical , Vital CapacityABSTRACT
The renal conversion of glutamine to glucose and its oxidation to CO(2) were compared in dogs in chronic metabolic acidosis and alkalosis. These studies were performed at normal endogenous levels of glutamine utilizing glutamine-(34)C (uniformly labeled) as a tracer. It was observed in five experiments in acidosis that mean renal extraction of glutamine by one kidney amounted to 27.7 mumoles/min. Of this quantity, 5.34 mumoles/min was converted to glucose, and 17.5 mumoles/min was oxidized to CO(2). Acidotic animals excreted an average of 41 mumoles/min of ammonia in the urine formed by one kidney. In contrast, in five experiments in alkalosis, mean renal extraction of glutamine amounted to 8.04 mumoles/min. Of this quantity, 0.92 mumole/min was converted to glucose, and 4.99 mumoles/min was oxidized to CO(2). Alkalotic animals excreted an average of 3.23 mumoles/min of ammonia in the urine. We conclude that renal gluconeogenesis is not rate limiting for the production and excretion of ammonia in either acidosis or alkalosis. Since 40% of total CO(2) production is derived from oxidation of glutamine by the acidotic kidney and 14% by the alkalotic kidney, it is apparent that renal energy sources change with acid-base state and that glutamine constitutes a major metabolic fuel in acidosis.
