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Blunted respiratory drive in congenital myopathy
Ventilatory
Congenital
myopathy
respiratory
drive in
involvement
Gaucher’s
Dyspnea
disease (adult form)
ior prenaiai
diagnosis.
form. The severity of this type of
makes ii a good candidate
enryrrlaiic
disease
and pulmonary gnvolvement were atypical of the “adult”
Gaucher’s
Three patients with “adult” Gauch,er’s disease with severe pulmonary involvement are described. The clmical course of these patients was characterized by hepatosplenomegaly in mfancy, followed by the juvenile onset of dyspnea culminating in pulmonary failure and death. Pathologic examination of the lungs in these patients revealed not only massive infiltration of alveolar walls by Gaucher’s cells but also clumps of these cells filling alveolar spaces and obliterating functional air exchanging tissue. The lack of neurologic involvement in these cases delineates them from the “juvenile” forms of Gaucher’s disease whereas the malignant course
Schneider EL, Epstein CJ, Kaback MJ, Brandes D: Severe pulmonary involvement in adult Gaucher’s disease. Report of three cases and review of the literature. Am J Med 63: 475-480.1977.
Hepatosplenomegaly
Pulmonary
Two patients with clinically mild congenital myopathies presented with chronic respiratory failure. Muscle weakness alone could not account for the respiratory insufficiency since static respiratory pressures were not markedly impaired, ventilation during exercise was normal, and daytime ventilation was normal if ventilatory assistance was provided at night. The ventilatory responses lo inhaled carbon dioxide were very low. suggesting that impairment of the central nervous respiratory chemoreceptor contributed to hypoventilation. These patients and others described in the literature suggest that central depression of ventilation may occur more frequently than previously recognized in patients with muscular disorders. Patients with chronic respiratory failure due to central depression of respiratory drive can be effectively managed by assisted ventilation at night.
Riley DJ, Santiago TV, Daniele RP. Schall B, Edelman NH: Blunted congenital myopathy. Am J Med 63: 459-466. 1977.
drive, blunted
capacity
Respiratory
I
Bartter’s
cell hyperplasia
Free water clearance
Jurtaglomerular
lntramembranous
deposits
in the ascending
loop.
clin;cally indisbnguishabie at OnS+i from membranoproliferati~e glomeriilonephritis, me passlbility of a variant with mild clinical course, no progression and spontaneous morphologic improvement is im’porlant in planning and assessing treatment programs in this disease group.
tramembranous and subendothelial electron-lucent areas, containing vesicles, are also seen. Subendofhelial deposits, mesangial interposition, splitting of the glomerular basemer;t membrane and ribbon-like intramembranous deposits are not found. The condition in these patients was
Two patients with a persistent mesangial proliferative glomerulonephritis and reduced C3 levels have been followed for six and 10 years. Both have had a mild course with normal renal function and spontaneous morphologic improvement. Ultrastructwally. irregular intramembranous electron-dense deposits are present, primarily within the lamina densa. These deposits are separated by varying lengths of normal-appearing glomerular basement membrane. In-
proliferative glovariant of hypo-
limb of Henle’s
Davis AE, Schneeberger EE, McCluskey RT, Grupe WE: Mesangial merulonephritis with irregular intramembranous deposits. Another complementemic nephritis. Am J Med 63: 481-487, 1977.
Hypocomplementemlc
sodium transport
nephritis
of an impaired
Glomerulonephritis
a consequence
diuresis. moreover, fractional free water clearance per fractional distal sodium delivery, CHZO/CH20+ (2~~.was markedly depressed in the patient when compared with the value in the controls. Evidence presented suggests that chronic extracellular volume depletion exists as
A patient with Bartter’s syndrome is described in whom electron micrograms confirmed the presence of juxtaglomerular cell hyperplasia with polymorphous renin secretory granules and dense multivesicular bodies. Volume expansion by albumin infusion decreased plasma renin activity and aldosterone excretion, and improved the pressor response to exogenous angiotensin, suggesting that the renin-angiotensin-aldosterone system was not autonomous but that a decreased extracellular volume might be a major defect in this patient. During hypotonic saline
Fujita T, Sakaguchl H, Shibagaki M, Fukui T, Nomura M. Sekiguchi S: The pathogenesls of Bartter’s syndrome. Functional and histologic studies. Am J Med 63: 467-474, 1977.
volume
syndrome
Extracellular
Congenital
myopathy
respiratory
drive in
involvement
Gaucher’s
Dyspnea
disease (adult form)
ior prenaiai
diagnosis.
form. The severity of this type of
makes ii a good candidate
enryrrlaiic
disease
and pulmonary gnvolvement were atypical of the “adult”
Gaucher’s
Three patients with “adult” Gauch,er’s disease with severe pulmonary involvement are described. The clmical course of these patients was characterized by hepatosplenomegaly in mfancy, followed by the juvenile onset of dyspnea culminating in pulmonary failure and death. Pathologic examination of the lungs in these patients revealed not only massive infiltration of alveolar walls by Gaucher’s cells but also clumps of these cells filling alveolar spaces and obliterating functional air exchanging tissue. The lack of neurologic involvement in these cases delineates them from the “juvenile” forms of Gaucher’s disease whereas the malignant course
Schneider EL, Epstein CJ, Kaback MJ, Brandes D: Severe pulmonary involvement in adult Gaucher’s disease. Report of three cases and review of the literature. Am J Med 63: 475-480.1977.
Hepatosplenomegaly
Pulmonary
Two patients with clinically mild congenital myopathies presented with chronic respiratory failure. Muscle weakness alone could not account for the respiratory insufficiency since static respiratory pressures were not markedly impaired, ventilation during exercise was normal, and daytime ventilation was normal if ventilatory assistance was provided at night. The ventilatory responses lo inhaled carbon dioxide were very low. suggesting that impairment of the central nervous respiratory chemoreceptor contributed to hypoventilation. These patients and others described in the literature suggest that central depression of ventilation may occur more frequently than previously recognized in patients with muscular disorders. Patients with chronic respiratory failure due to central depression of respiratory drive can be effectively managed by assisted ventilation at night.
Riley DJ, Santiago TV, Daniele RP. Schall B, Edelman NH: Blunted congenital myopathy. Am J Med 63: 459-466. 1977.
drive, blunted
capacity
Respiratory
I
Bartter’s
cell hyperplasia
Free water clearance
Jurtaglomerular
lntramembranous
deposits
in the ascending
loop.
clin;cally indisbnguishabie at OnS+i from membranoproliferati~e glomeriilonephritis, me passlbility of a variant with mild clinical course, no progression and spontaneous morphologic improvement is im’porlant in planning and assessing treatment programs in this disease group.
tramembranous and subendothelial electron-lucent areas, containing vesicles, are also seen. Subendofhelial deposits, mesangial interposition, splitting of the glomerular basemer;t membrane and ribbon-like intramembranous deposits are not found. The condition in these patients was
Two patients with a persistent mesangial proliferative glomerulonephritis and reduced C3 levels have been followed for six and 10 years. Both have had a mild course with normal renal function and spontaneous morphologic improvement. Ultrastructwally. irregular intramembranous electron-dense deposits are present, primarily within the lamina densa. These deposits are separated by varying lengths of normal-appearing glomerular basement membrane. In-
proliferative glovariant of hypo-
limb of Henle’s
Davis AE, Schneeberger EE, McCluskey RT, Grupe WE: Mesangial merulonephritis with irregular intramembranous deposits. Another complementemic nephritis. Am J Med 63: 481-487, 1977.
Hypocomplementemlc
sodium transport
nephritis
of an impaired
Glomerulonephritis
a consequence
diuresis. moreover, fractional free water clearance per fractional distal sodium delivery, CHZO/CH20+ (2~~.was markedly depressed in the patient when compared with the value in the controls. Evidence presented suggests that chronic extracellular volume depletion exists as
A patient with Bartter’s syndrome is described in whom electron micrograms confirmed the presence of juxtaglomerular cell hyperplasia with polymorphous renin secretory granules and dense multivesicular bodies. Volume expansion by albumin infusion decreased plasma renin activity and aldosterone excretion, and improved the pressor response to exogenous angiotensin, suggesting that the renin-angiotensin-aldosterone system was not autonomous but that a decreased extracellular volume might be a major defect in this patient. During hypotonic saline
Fujita T, Sakaguchl H, Shibagaki M, Fukui T, Nomura M. Sekiguchi S: The pathogenesls of Bartter’s syndrome. Functional and histologic studies. Am J Med 63: 467-474, 1977.
volume
syndrome
Extracellular