Pulmonary hypoplasia

A Pulmonary 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 need artificial ventilation. Hernias can be corrected prenatally.

What is pulmonary hypoplasia?

Genetically determined underdevelopments of tissues or entire parts and organs are called hypoplasias. Depending on the extent, the underdevelopment can result in a functional failure or at least a functional disorder. The Pulmonary hypoplasia is a congenital underdevelopment of the lungs. The fetal lungs do not mature sufficiently in the context of hypoplasia.

One or both lungs are reduced in size. The most common symptom of hypoplastic lung is shortness of breath in the newborn. Various interrelationships that cause disorders in the fetal phase can be considered as the cause of the phenomenon. The severity of pulmonary hypoplasia can vary greatly depending on the cause.

Almost symptom-free, mild forms are just as conceivable as severe or even lethal forms. Pulmonary hypoplasia is the failure of the lungs to be distinguished, which is never compatible with life and always results in a lethal course.

causes

The etiology of pulmonary hypoplasia has been extremely well researched. A number of different factors can play a causal role in the lack of development of the lungs, for example 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.

The hernia can compress the fetal lungs. As a result of this compression, the lungs are stunted in growth. In addition to the hernias of the diaphragm, bilateral renal agnesias can also trigger hypoplasia of the lungs. This phenomenon is mainly present in the context of Potter syndrome and is incompatible with life.

Because the fetus drinks amniotic fluid, but due to the kidneys failing to release it into the amniotic sac for reprocessing, this phenomenon is characterized by a lack of amniotic fluid, which favors the hypoplasia of the lungs. Pulmonary hypoplasia can also be caused by a lack of amniotic fluid with a different origin. If the phenomenon is based on Potter syndrome, the course is fatal.

Symptoms, ailments & signs

Lung hypoplasia manifests itself immediately after birth. The patients suffer from severe dyspnea, which can 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.

The tissue is drawn into the spaces between the ribs or above the breastbone when you breathe. In addition, the patients groan as they exhale. When you breathe in, your nostrils move a lot. 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 the lungs.

The most common complications of pulmonary hypoplasia and the resulting shortness of breath include the formation of emphysema and other accumulations of air in the tissue, in the pneumothorax, the pneumomediastinum or the pneumoperitoneum. The pulmonary emphysema even worsens the shortness of breath over time. The circumference of the chest grows and the strain on the heart can encourage the formation of a teardrop heart.

Diagnosis & course of disease

A reliable diagnosis of pulmonary hypoplasia cannot be made prenatally and is made radiographically after birth. Nonetheless, prenatal malformations can be shown on ultrasound. For example, diaphragmatic hernias in connection with evidence of oligohydramnios can make pulmonary hypoplasia assessable before birth.

After birth, especially shortness of breath in newborns, the doctor will order an X-ray imaging that clearly shows the hypoplasia. The prognosis depends on the cause and extent of the hypoplasia.

Complications

Due to the pulmonary hypoplasia, those affected primarily suffer from relatively severe breathing difficulties. In most cases, these complaints severely limit the person's everyday life and also reduce the patient's quality of life. The skin is not infrequently colored blue and those affected suffer from tiredness and fatigue.

Resilience is also significantly reduced, which can also lead to delayed child development. Pulmonary hypoplasia can also lead to shortness of breath. The pulmonary hypoplasia puts just as much stress on the heart, which can lead to sudden cardiac death. It is not uncommon for those affected to lose consciousness and possibly injure themselves if they 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 only symptomatic and aims to limit the symptoms. There are no particular complications. However, the affected person is dependent on surgical interventions. This also prevents further defects and consequential damage to the lungs.

When should you go to the doctor?

If breathing irregularities occur in a newborn, medical care must take place as soon as possible. Without medical treatment, there is a risk of the child's premature death. In the case of inpatient delivery, the mother-to-be is continuously under medical care. Pediatricians or nurses determine the problems and disorders of the child's breathing 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 abnormalities or complications, she initiates all necessary steps to ensure that the newborn is adequately cared for. Contact with a doctor and an ambulance is automatically established by the midwife, so that the parents do not have to take any further measures for this form of delivery.

If there is an unplanned and spontaneous delivery without the presence of nursing staff, first aid measures must be taken over. An emergency doctor must be alerted immediately. The instructions of the emergency center must be followed so that there is no fatal outcome. The child's breathing must be replaced by artificial respiration. In addition, the newborn must immediately receive intensive medical care.

Therapy & Treatment

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 airway. In the case of hernia of the diaphragm, endotracheal intubation is used. The patient is initially artificially ventilated. A respiratory distress syndrome can in individual cases require long-term ventilation with high oxygen partial pressures and in this case includes continuous monitoring of the values.

Air is often pumped out of the stomach and intestines at the same time via a gastric tube, so that the lungs are less compressed. The final treatment of hernias is surgical and corresponds to a repositioning of organs and a 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, since the hypoplasia of the lungs can be reduced in this way.

There are only a few postnatal treatment options for hypoplasia following diaphragmatic defects, so all possible treatment options should be exhausted prenatally. The options include, for example, 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 birth process to avoid complications.

A current research subject in medicine is the use of self-degrading biomaterials for 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 the pulmonary hypoplasia. The prognosis is unfavorable because the cause of the disease is genetic and the lungs are not fully developed in the early stages of development. Human genetics must not be changed due to legal requirements. For this reason, the focus of medical treatment is not on alleviating the existing symptoms.

If left untreated, there is a risk of premature death. Breathing activity is severely restricted and can cause death in particularly severe cases. Since the patient's quality of life is significantly reduced in the case of pulmonary hypoplasia, the risks of developing secondary disorders are increased. The prognosis improves if the patient actively implements the self-help measures over their lifetime. The absorption of harmful substances from nicotine or gases must be completely avoided. The environmental influences must be optimized so that breathing is supported.

Long-term ventilation is necessary in some patients. 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 goes without further complications, further development improves. Nevertheless, there are lifelong limitations that must be taken into account when coping with everyday life.

prevention

Lung hypoplasia caused by hernias can be avoided by performing prenatal corrections of the defect as part of fetal surgery. For hypoplasia due to insufficient amniotic fluid, significantly less effective preventive measures are available so far.

You can do that yourself

Lung hypoplasia leads to 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 worries and fears at an early stage, so that fear is prevented from developing. At the first signs it is helpful to face the strong worries offensively 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 must always be enriched with sufficient oxygen and the patient must be supplied with fresh air. Walks and regular ventilation of the premises improve general wellbeing. They help with breathing and can reduce existing worries. Smoking is strictly forbidden in order not to cause additional stress. Stays in smoking rooms or cramped rooms are also to be avoided.

Pulmonary hypoplasia patients have the opportunity to exchange ideas with other affected persons in self-help groups or in various forums on the Internet. The communal exchange can be found helpful in everyday life. Mutual support for everyday questions or challenges is given.