Peripheral chemoreceptors in congenital central hypoventilation syndrome

被引:62
作者
Cutz, E [1 ]
Ma, TKF [1 ]
Perrin, DG [1 ]
Moore, AM [1 ]
Becker, LE [1 ]
机构
[1] UNIV TORONTO,HOSP SICK CHILDREN,DEPT PATHOL & NEONATOL,TORONTO,ON M5G 1X8,CANADA
关键词
D O I
10.1164/ajrccm.155.1.9001336
中图分类号
R4 [临床医学];
学科分类号
1002 ; 100602 ;
摘要
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of unknown etiology, characterized by failure of the autonomic control of respiration. The primary defect is believed to involve central respiratory control; however, no specific lesion has been identified. We report two cases of CCHS (one female, 3 mo of age and one male 2 yr of age) in which there was detailed examination of the neural, muscular, and chemoreceptor components of respiratory control. Although no specific abnormalities were identified in the central nervous system (CNS) or muscles of respiration, striking changes were observed in arterial chemoreceptors, carotid bodies (CB), and airway chemoreceptors, neuroepithelial bodies (NEB). In both cases, CB were small (< 50% of control), with a marked decrease in the number of glomus cells identified by immunostaining for tyrosine hydroxylase and serotonin. Ultrastructural analysis of glomus cells in Case 1 showed a marked decrease in the frequency of dense core vesicles (< 20% of control), the storage site of amine and peptide neurotransmitters. Immuno-staining for $100 protein, a marker of sustentacular or Type II cells, was increased up to twofold compared with controls. In the lung, the frequency and size of NEB immunostained for bombesin was increased twofold in both cases, suggesting compensatory hyperplasia of airway chemoreceptors. Since intact peripheral chemoreceptors are essential for respiratory control, especially the response to hypoxia, abnormalities in CB and NEB may contribute to the pathophysiology of CCHS and related conditions such as sudden infant death syndrome (SIDS).
引用
收藏
页码:358 / 363
页数:6
相关论文
共 34 条
[1]   CHIEF CELL HYPERPLASIA IN HUMAN CAROTID-BODY AT HIGH-ALTITUDES - PHYSIOLOGIC AND PATHOLOGIC SIGNIFICANCE [J].
ARIASSTELLA, J ;
VALCARCEL, J .
HUMAN PATHOLOGY, 1976, 7 (04) :361-373
[2]   PATHOLOGICAL FEATURES OF PERSISTENT INFANTILE SLEEP-APNEA WITH REFERENCE TO THE PATHOLOGY OF SUDDEN INFANT DEATH SYNDROME [J].
ARMSTRONG, D ;
SACHIS, P ;
BRYAN, C ;
BECKER, L .
ANNALS OF NEUROLOGY, 1982, 12 (02) :169-174
[3]   CHRONIC HYPOVENTILATION AND DEVELOPMENT OF BRAIN-STEM GLIOSIS [J].
BECKER, LE ;
TAKASHIMA, S .
NEUROPEDIATRICS, 1985, 16 (01) :19-23
[4]   REGULATION OF RESPIRATION .1. [J].
BERGER, AJ ;
MITCHELL, RA ;
SEVERINGHAUS, JW .
NEW ENGLAND JOURNAL OF MEDICINE, 1977, 297 (02) :92-97
[5]   ONDINES CURSE AND NEUROCRISTOPATHY [J].
BOWER, RJ ;
ADKINS, JC .
CLINICAL PEDIATRICS, 1980, 19 (10) :665-668
[6]   POSTNATAL MATURATION OF RESPIRATION IN INTACT AND CAROTID BODY-CHEMODENERVATED LAMBS [J].
BUREAU, MA ;
LAMARCHE, J ;
FOULON, P ;
DALLE, D .
JOURNAL OF APPLIED PHYSIOLOGY, 1985, 59 (03) :869-874
[7]  
BURTON MD, 1995, FASEB J, V9, pA666
[8]   CAROTID-BODY - QUANTITATIVE ASSESSMENT IN CHILDREN [J].
DINSDALE, F ;
EMERY, JL ;
GADSDON, DR .
HISTOPATHOLOGY, 1977, 1 (03) :179-187
[9]   PROLONGED APNEA AND IMPAIRED SURVIVAL IN PIGLETS AFTER SINUS AND AORTIC NERVE-SECTION [J].
DONNELLY, DF ;
HADDAD, GG .
JOURNAL OF APPLIED PHYSIOLOGY, 1990, 68 (03) :1048-1052
[10]  
DURIVAGE SK, 1985, PEDIATRICS, V75, P891