Lung hypoplasia is an underdevelopment of one or both wings during embryonic development, which may be due to a lack of amniotic fluid or hernia of the diaphragm. Affected newborns suffer from shortness of breath and often have to be artificially ventilated. Hernias can be corrected prenatally.
What is pulmonary hypoplasia?
According to Etaizhou, hypoplasias are genetically determined underdevelopments of tissues or entire organ parts and organs. Depending on the extent, the underdevelopment can result in a functional failure or at least a functional disorder. Lung hypoplasia is a congenital underdevelopment of the lungs. The fetal lung does not mature sufficiently in the context of hypoplasia.
One or both lungs show a reduction in size. The most common symptom of hypoplastic lungs is shortness of breath in the newborn. As a cause for the phenomenon, various connections come into consideration, which cause disturbances in the fetal phase. The severity of pulmonary hypoplasia can vary greatly depending on the cause.
Almost asymptomatic, mild forms are just as conceivable as severe or even fatal forms. The non-construction of the lungs, which is never compatible with life and always results in a lethal course, must be distinguished from lung hypoplasia.
The etiology of pulmonary hypoplasia is extremely well understood. A number of different factors can play a causal role in the insufficient development of the lungs, such as congenital diaphragmatic hernias. These diaphragmatic hernias are malformations of the diaphragm that do not allow a complete separation of the thoracic space from the abdominal space.
Hernias can compress the fetal lungs. As a result of this compression, the growth of the lungs is stunted. In addition to hernias of the diaphragm, bilateral renal agnesia can also trigger hypoplasia of the lungs. This phenomenon is mainly present in the context of Potter syndrome and is not compatible with life.
Because the fetus drinks amniotic fluid, but due to the failure of the kidneys to recycle it into the amniotic sac, there is a lack of amniotic fluid, which promotes hypoplasia of the lungs. Lung hypoplasia can also be caused by a lack of amniotic fluid with other causes. If the phenomenon is due to Potter syndrome, the course is fatal.
Symptoms, Ailments & Signs
Lung hypoplasia manifests itself immediately after birth. Patients suffer from severe dyspnea, which may be associated with cyanosis. The skin turns bluish as part of this symptom, as there is an insufficient supply of oxygen due to the impaired lung function due to the hypoplasia.
When you breathe, the tissue moves into the spaces between the ribs or above the breastbone. In addition, patients moan when exhaling. Her nostrils move sharply when she inhales. In addition, they suffer from pathologically accelerated breathing in the sense of tachypnea, with which their organism tries to compensate for the insufficient size of their lungs.
One of the most common complications of pulmonary hypoplasia and the resulting shortness of breath is the formation of emphysema and other accumulations of air in the tissue, pneumothorax, pneumomediastinum, or pneumoperitoneum. The pulmonary emphysema even worsens the shortness of breath as it progresses. The girth of the chest increases and the heart load can favor the formation of a drop heart.
Diagnosis & disease progression
The reliable diagnosis of lung hypoplasia cannot be made prenatally and is made by X-ray after birth. Nonetheless, prenatal ultrasound can show malformations. Diaphragmatic hernias in connection with evidence of oligohydramnios can make it possible to assess lung hypoplasia even before birth.
After the birth, especially shortness of breath in newborns, the doctor orders an X-ray imaging, from which the hypoplasia is clearly visible. The prognosis depends on the cause and severity of the hypoplasia.
Due to pulmonary hypoplasia, those affected primarily suffer from relatively severe breathing difficulties. In most cases, these complaints significantly restrict the patient’s everyday life and also reduce the patient’s quality of life. The skin is often blue in color and those affected suffer from tiredness and exhaustion.
The resilience is also significantly reduced, which can also lead to delayed child development. Lung hypoplasia can also lead to shortness of breath. The heart is just as heavily burdened by the pulmonary hypoplasia, so that sudden cardiac death can occur. It is not uncommon for those affected to lose consciousness and possibly injure themselves in the event of a fall. Without treatment, the patient’s life expectancy can be significantly reduced.
As a rule, pulmonary hypoplasia cannot be treated causally. Therefore, the treatment is exclusively symptomatic and aims to limit the symptoms. There are no particular complications. However, the affected person is dependent on surgical interventions. As a result, further defects and consequential damage to the lungs can be avoided.
When should you go to the doctor?
If breathing irregularities occur in a newborn, medical care must be provided as soon as possible. Without medical treatment, the child may die prematurely. In the case of an inpatient delivery, the expectant mother is constantly under medical care. Pediatricians or nurses determine the problems and disturbances in the child’s breathing activity in routine examinations. The parents of the newborn do not have to take any action in these cases.
Measures are automatically taken to ensure that the child’s organism is supplied with sufficient oxygen. In the case of a home birth, the midwife takes on the tasks that arise. If there are any abnormalities or complications, she initiates all the necessary steps to ensure that the newborn is adequately cared for. The contact to a doctor and an ambulance is automatically established by the midwife, so that the parents do not have to take any further measures with this type of delivery either.
If there is an unplanned and spontaneous delivery without the presence of nursing staff, first aid measures must be taken over. An ambulance must be alerted immediately. The instructions of the emergency center must be followed so that there is no fatal outcome. The child’s respiratory activity must be replaced by artificial respiration. In addition, the newborn needs immediate intensive medical care.
Treatment & Therapy
In many cases, pulmonary hypoplasia cannot be treated causally and is therefore mainly treated symptomatically. The most important step in this treatment is securing the airways. Endotracheal intubation is performed for diaphragmatic hernias. The patient is initially artificially ventilated. In individual cases, respiratory distress syndrome may require long-term ventilation with high oxygen partial pressures and in this case involves continuous monitoring of the values.
At the same time, air is often pumped out of the stomach and intestines via a gastric tube, so that the lungs are less compressed. The definitive treatment of hernias is surgical and corresponds to moving organs back and then closing the gap in the diaphragm. If the diaphragm defects are diagnosed before birth, fetal surgery and thus the prenatal repair of the defects is usually the most promising therapeutic measure, since the hypoplasia of the lungs can be reduced in this way.
There are only a few postnatal treatment options for hypoplasia after diaphragmatic defects, so that all possible treatment options should be exhausted before birth. The options include, for example, an open intrauterine repair of the defects. A minimally invasive tracheal occlusion using a titanium clip is also an option. If a titanium clip is used, this clip must be removed during the delivery process to avoid complications.
A current research topic in medicine is the use of self-degrading biomaterials for the prenatal repair of fetal hernias. However, this therapeutic step is not yet in the clinical phase.
Outlook & Forecast
There is no prospect of a cure for lung hypoplasia. The prognosis is unfavorable because the cause of the disease is genetic and the lungs are not fully formed even in the early stages of development. Human genetics may not be modified due to legal requirements. For this reason, the focus of medical treatment is not on alleviating the existing symptoms.
If left untreated, the patient is at risk of premature death. Breathing is severely restricted and can cause death in particularly severe cases. Since the patient’s quality of life is significantly restricted in the case of pulmonary hypoplasia, the risk of developing secondary disorders is increased. The prognosis improves if the patient actively implements self-help measures throughout their lifetime. The intake of harmful substances from nicotine or gases should be avoided completely. The environmental influences must be optimized so that breathing activity is supported.
Some patients require long-term ventilation. In addition, there may be surgical interventions that should lead to an improvement in breathing activity. Every procedure is associated with risks and side effects. If the treatment proceeds without further complications, further development improves. Nevertheless, there are lifelong restrictions that must be taken into account when coping with everyday life.
Lung hypoplasia due to hernias can be avoided by prenatal correction of the defect during fetal surgery. Significantly less effective preventive measures are currently available for hypoplasia due to a lack of amniotic fluid.
You can do that yourself
Lung hypoplasia causes shortness of breath in many patients. In the worst case, this can lead to the development of an anxiety disorder or panic. The person concerned should therefore cultivate a healthy approach to dealing with worries and fears at an early stage, so that the emergence of fear is prevented. At the first signs, it is helpful to confront the strong concerns and to deal with them. Positive thoughts and an optimistic attitude are helpful. Relaxation techniques can also be used. As soon as fears intensify or new ones arise, therapeutic help should be sought.
The environment should always be enriched with sufficient oxygen and the patient should be provided with fresh air. Walks and regular airing of the premises improve general well-being. They help with breathing and can relieve existing worries. Smoking must be avoided as a matter of principle, in order not to cause any additional stress. Stays in smoking rooms or cramped rooms should also be avoided.
The patient with lung hypoplasia has the opportunity to exchange information with other affected people in self-help groups or on the Internet in various forums. The joint exchange can be perceived as helpful in everyday life. Mutual support for everyday questions or challenges is given.