Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome

2020 ◽  
Author(s):  
Giorgia Testoni ◽  
Bárbara Olmeda ◽  
Jordi Duran ◽  
Elena López-Rodríguez ◽  
Mònica Aguilera ◽  
...  

Abstract The glycogenin knockout mouse is a model of Glycogen Storage Disease type XV. These animals show high perinatal mortality (90%) due to respiratory failure. The lungs of glycogenin-deficient embryos and P0 mice have a lower glycogen content than that of wild-type counterparts. Embryonic lungs were found to have decreased levels of mature surfactant proteins SP-B and SP-C, together with incomplete processing of precursors. Furthermore, non-surviving pups showed collapsed sacculi, which may be linked to a significantly reduced amount of surfactant proteins. A similar pattern was observed in glycogen synthase1-deficient mice, which are devoid of glycogen in the lungs and are also affected by high perinatal mortality due to atelectasis. These results indicate that glycogen availability is a key factor for the burst of surfactant production required to ensure correct lung expansion at the establishment of air breathing. Our findings confirm that glycogen deficiency in lungs can cause respiratory distress syndrome and suggest that mutations in glycogenin and glycogen synthase 1 genes may underlie cases of idiopathic neonatal death.

PEDIATRICS ◽  
1959 ◽  
Vol 24 (6) ◽  
pp. 1069-1101
Author(s):  
L. Stanley James

To improve our understanding of the respiratory distress syndrome, the importance of early examination of the infant, preferably at delivery, cannot be overemphasized. An attempt should be made to estimate clinically the degree of birth asphyxiation by a method such as the Apgar Score. The nature of respirations as well as the rate should be noted, particularly retractions and grunting. Decreased response to stimuli or poor tone, and a low blood pressure are significant signs. In this review, a number of comparisons have been drawn, including evidence from adult medicine or animal experiments. While these may appear unrelated, irrelevant or unduly speculative, they have been introduced for several purposes: to draw attention to aspects of the syndrome other than respiratory distress; to acquaint the general reader with more recent physiology which is deemed pertinent; and to emphasize the importance of relating one system to another, especially respiration to circulation. Many of the studies of respiratory function point to cardiac as well as pulmonary failure, notably the need for oxygen in the presence of a normal tidal and increased minute volume. Other circumstantial evidence of cardiac failure is abundant. Asphyxia appears to play a central role, affecting almost every system in the body and every phase of metabolism. It is probably responsible for the normal or low venous pressures occurring with a failing myocardium. It also accounts for the higher incidence of respiratory distress in the smaller prematures who are unable to achieve and maintain normal lung expansion. The syndrome is uncommon in larger full-term infants and in these instances is associated with obstetrical complications causing more severe degrees of birth asphyxia. The clinical picture includes a number of variations depending upon whether respiratory depression or symptoms relating to the central nervous or gastrointestinal systems predominate. Nevertheless, diagnosis of the respiratory distress syndrome should rely not on the presence or absence of membranes at necropsy, but rather on the history, symptoms and clinical signs. Inasmuch as asphyxia is not a disease, it would seem more logical to regard the syndrome as a failure in adaptation to extrauterine life. Failure to comprehend the many adaptations which newborn infants must make, both cardiopulmonary and biochemical, together with a narrow view centering only around the hyaline membranes, have for so many years cloaked this syndrome with mystery. Physiologic measurements in sick infants are difficult, and many of the determinations and calculations arduous. Some of the studies require confirmation, and others remain to be done, employing new or improved technics which are free from disadvantages of older methods. Because of many variables, caution should be exercised in drawing conclusions from a small number of cases. Early pioneering work has contributed greatly and has paved the way for future investigations. The value of serial studies correlated with careful clinical observations in order that the precise nature of a dynamic process may be more fully revealed has been clearly shown.


Author(s):  
Joanna Floros ◽  
David S. Phelps ◽  
Daphne E. deMello ◽  
Jeff Longmate ◽  
Heather Harding

PEDIATRICS ◽  
1991 ◽  
Vol 88 (1) ◽  
pp. 84-89
Author(s):  
Shoichi Chida ◽  
David S. Phelps ◽  
Roger F. Soll ◽  
H. William Taeusch

The presence of surfactant protein antigenemia and of surfactant protein antibodies was determined in serum from surfactant-treated and control infants with respiratory distress syndrome who were enrolled in a prospective randomized clinical trial. The surfactant used for treatment (surfactant TA) contained surfactant proteins (SPs) B and C and no SP-A. Enzymelinked immunosorbent assays (ELISAs) that identify surfactant-associated proteins and ELISAs that identify IgG or IgM directed against surfactant proteins were used to investigate sera from these infants obtained prior to treatment, at 1 week of age, and at 2 months of age. There were no significant differences between average values in the surfactant-treated and control groups at each time period. However, in the control group, averaged results from ELISAs that identify SP-A and that identify IgM antibodies to SP-A or to SP-B,C showed significant differences between pretreatment sera and sera obtained at 1 week of age. No significant differences were noted in averaged results for IgG. Positive ELISA values were more frequently found in the control group than in the surfactant-treated group with regard to SP-A, and IgM against SP-A and SP-B,C in sera from neonates at 1 week of age. No positive ELISA values were found in sera from infants at 2 months of age. It is concluded that some patients with severe respiratory distress syndrome presumably leak surfactant proteins into the circulation and that this induces transient low titers of IgM antibody. This occurrence is decreased with surfactant treatment. Surfactant treatment may reduce leak of surfactant proteins into the vascular space by reducing lung damage.


2003 ◽  
Vol 42 (12) ◽  
pp. 1219-1222 ◽  
Author(s):  
Munehide NAKATSUGAWA ◽  
Hiroki TAKAHASHI ◽  
Chikako TAKEZAWA ◽  
Kazutaka NAKAJIMA ◽  
Kazutoki HARADA ◽  
...  

2013 ◽  
Vol 28 (1) ◽  
pp. 111.e9-111.e15 ◽  
Author(s):  
Ruy Camargo Pires-Neto ◽  
Maina Maria Barbosa Morales ◽  
Tatiana Lancas ◽  
Nicole Inforsato ◽  
Maria Irma Seixas Duarte ◽  
...  

2015 ◽  
Vol 52 (5) ◽  
pp. 391-394
Author(s):  
Walaa A. Abuelhamed ◽  
Nancy Zeidan ◽  
Walaa A. Shahin ◽  
Hoda I. Rizk ◽  
Walaa A. Rabie

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