What is pulmonary hypoplasia?
Hypoplasias are the genetic underdevelopments of tissues or whole organ parts and organs. Depending on the extent, the underdevelopment may result in a functional failure or at least a functional disturbance. Lung hypoplasia is a congenital underdevelopment of the lungs. The fetal lung does not sufficiently mature during hypoplasia.
One or both lungs show a reduction in size. The most common symptom of a hypoplastic lung is the respiratory distress of the newborn. The cause of the phenomenon can be considered as various relationships that cause disturbances in the fetal phase. The severity of pulmonary hypoplasia can vary greatly depending on the cause.
Almost asymptomatic, mild manifestations are conceivable as well as severe or even lethal forms. The pulmonary hypoplasia is distinguished from the absence of the lung, which is never compatible with life and always results in a lethal course.
The etiology of pulmonary hypoplasia is extremely well researched. A number of different factors may play a causative role in the lack of development of the lungs, such as congenital diaphragmatic hernias. These diaphragmatic hernias are malformations of the diaphragm, which do not allow a complete separation of the thoracic space from the abdominal space.
Through the hernias the fetal lung can be compressed. As a result of this compression, the lungs are inhibited in growth. In addition to the hernias of the diaphragm, bilateral renal sagging may also trigger hypoplasia of the lungs. This phenomenon is mainly in the context of the Potter syndrome and is not compatible with life.
Although the fetus drinks amniotic fluid but does not give it up for reprocessing into the amniotic sac due to the inability of the kidneys to dispose of it, there is a shortage of amniotic fluid in this phenomenon which favors the hypoplasia of the lungs. The pulmonary hypoplasia can also be caused by an amniotic fluid deficiency of a different origin. If the phenomenon is based on the Potter syndrome, the course is lethal.
Symptoms, complaints & signs
Lung hypoplasia manifests immediately after birth. Patients suffer from severe dyspnoea, which may be associated with cyanosis. The skin turns bluish in the context of this symptom, since due to the impaired lung function due to the hypoplasia is a shortage of oxygen.
Into the rib gaps or above the breastbone, the tissue is absorbed during breathing. In addition, the patients moan when exhaling. When inhaling, her nostrils move strongly. In addition, they suffer from pathologically accelerated breathing in the sense of tachypnoea, with their organism tries to compensate for the lack of size of the lungs.
The most common complications of pulmonary hypoplasia and the resulting respiratory distress include the formation of emphysema and other airborne tissue accumulation, pneumothorax, pneumomediastinum or pneumoperitoneum. The emphysema of the lungs even aggravates the respiratory distress in the course. The circumference of the rib cage grows and the heart load can favor the formation of a drop heart.
Diagnosis & disease course
The definitive diagnosis of pulmonary hypoplasia can not take place prenatally and is radiographed after birth. Nevertheless, prenatal malformations can be detected in the ultrasound. For example, diaphragmatic hernias can predict pulmonary hypoplasia prior to birth in association with evidence of oligohydramnios.
After birth, especially respiratory distress in neonates allows the doctor to arrange an X-ray, from which the hypoplasia is clearly visible. The prognosis depends on the cause and the extent of the hypoplasia.
Due to the pulmonary hypoplasia, those affected primarily suffer from relatively severe respiratory problems. In most cases, these complaints considerably limit the daily life of the person concerned and also reduce the quality of life of the patients. The skin is often dyed blue and sufferers suffer from tiredness and a fatigue.
Likewise, the load capacity is significantly reduced, which can also lead to a delayed child development. Furthermore, pulmonary hypoplasia may also cause respiratory distress. The heart is also heavily burdened by pulmonary hypoplasia, causing a sudden cardiac death. Not infrequently, those affected lose consciousness and may injure themselves in a fall. Without treatment can lead to a significantly reduced life expectancy of the patient.
As a rule, pulmonary hypoplasia can not be treated causally. Therefore, the treatment takes place exclusively symptomatic and aims to reduce the symptoms. There are no special complications. However, the person concerned is dependent on surgical interventions. As a result, further defects and secondary damage to the lungs can be avoided.
When should you go to the doctor?
If irregularities in breathing occur in a newborn, medical care must be provided as soon as possible. It threatens without medical treatment, the premature death of the child. In case of inpatient delivery, the expectant mother is continuously in medical care. Pediatricians or nurses diagnose the problems and disorders of the child's respiratory activity in routine investigations. The parents of the newborn do not have to become active in these cases.
There are automatically taken measures to ensure that the organism of the child is supplied with sufficient oxygen. In a home birth, the midwife takes over the tasks. If it comes to abnormalities or complications, it initiates all necessary steps for an adequate care of the newborn. The contact to a doctor and patient transport is automatically established by the midwife, so that no further measures of the parents have to be taken even with this form of delivery.
If there is an unplanned and spontaneous delivery without the presence of caregivers, first aid measures must be taken. Immediately an emergency doctor is to be alerted. The instructions of the emergency room must be followed, so that it does not come to deadly course. The child's respiratory activity must be replaced by artificial respiration. In addition, the newborn must be cared for intensive care immediately.
Therapy & Treatment
In many cases, pulmonary hypoplasia can not be treated causally and is therefore treated predominantly symptomatically. The most important step in this treatment is to secure the respiratory tract. Hernia of the diaphragm is endotracheally intubated. The patient is being artificially ventilated for the time being. Respiratory distress syndrome may require long-term ventilation with high oxygen partial pressures in individual cases, and in this case includes uninterrupted control of the values.
At the same time, air is pumped out of the stomach and intestines via an attached nasogastric tube so that the lungs are less compressed. The final treatment of hernias is surgical and corresponds to a return of organs and subsequent closure of the gap in the diaphragm. If the diaphragmatic defects are diagnosed before birth, fetal surgery and thus the prenatal repair of the defects is usually the most promising therapeutic measure, as the hypoplasia of the lungs can be reduced.
There are only few treatment options available for hypoplasia after diaphragmatic defects, so that all possible treatment options should be exhausted before birth. Options include, for example, an open intrauterine repair of the defects. In addition, a minimally invasive tracheal occlusion using a titanium clip is an option. If a titanium clip is used, this clip must be removed at birth to avoid complications.
A current research topic in medicine is the use of self-degrading biomaterials for prenatal repair of fetal hernias. However, this therapy step is still not in the clinical phase.
Outlook & Forecast
There is no prospect of a cure for pulmonary hypoplasia. The prognosis is unfavorable because it is a genetic cause of the disease and the lungs are not fully developed in the early stages of development. The genetics of humans must not be changed due to legal requirements. For this reason, the focus is not in a medical treatment on alleviating the existing symptoms.
Left untreated the person threatened premature death. The breathing activity is severely limited and can cause death in particularly severe cases. Since the quality of life of the patient is significantly reduced in pulmonary hypoplasia, the risks for the development of subsequent disorders are increased. The prognosis improves when the patient actively implements self-help measures over the lifetime. The intake of pollutants from nicotine or gases should be completely avoided. The environmental influences must be optimized to support the breathing activity.
Some patients require long-term ventilation. In addition, there may be surgical interventions that should lead to an improvement of the respiratory activity. Each procedure involves risks and side effects. If the treatment proceeds without further complications, the further development improves. Nevertheless, there are lifelong limitations that must be taken into account when dealing with everyday life.
Hernia pulmonary hypoplasias can be avoided by prenatal correction of the defect during fetal surgery. For hypoplasias due to lack of amniotic fluid far less effective preventive measures are available so far.
You can do that yourself
Lung hypoplasia causes respiratory distress in many patients. In the worst case this can lead to the development of an anxiety disorder or panic. The affected person should therefore early on maintain a healthy handling of worries and fears so that the development of a fear is prevented. At the first signs, it is helpful to face the strong concerns offensively and to deal with them. Helpful are positive thoughts and an optimistic attitude. In addition, relaxation techniques can be used. As fears increase or new ones come in, therapeutic help should be sought.
The environment should always be enriched with sufficient oxygen and the patient should be supplied with fresh air. Walks and regular ventilation of the premises improve the general well-being. They help with breathing and can reduce existing worries. As a rule, smoking should be avoided so as not to cause additional stress. Likewise, stays in smoking rooms or cramped rooms should be avoided.
The patient with pulmonary hypoplasia has the opportunity to interact with other people in self-help groups or on the Internet in various forums. The communal exchange can be found helpful in everyday life. Mutual support for everyday questions or challenges is given.