Babies who are born prematurely experience various disorders. These disorders occur because of the underdevelopment of a particular organ. Bronchopulmonary Dysplasia is a very serious condition which occurs predominantly in premature babies. Bronchopulmonary Dysplasia was first noticed in 1976, among pre term babies suffering respiratory distress. The babies were categorized as ventilator dependent as they needed increased oxygen.
Symptoms of Bronchopulmonary Dysplasia
Chronic lung disease or Bronchopulmonary dysplasia occurs because of developmental disorders. The cellular arrangement in the lung tissue is also impaired to a large extent. Babies who are born at a gestation period of 34 weeks are prone to chronic lung disease. Studies imply that babies whose weight is less than 4 pounds during this period also experience symptoms of this condition. This happens because of the reduced development of the alveoli in the lung tissue.
These babies are often treated with positive pressure ventilation (PPV), but since they do not have enough antioxidants, there is a possibility of developing oxygen toxicity. The relation between Bronchopulmonary dysplasia and oxygen toxicity is very significant in understanding the exact cause. In many cases, ventilator associated positive pressure treatment has aggravated the condition. The classical symptoms associated are shortness of breath, cyanosis, increased breathing rate and cough.
Diagnosis of Bronchopulmonary Dysplasia
The treatment options become easier for Bronchopulmonary dysplasia, if the root cause is effectively diagnosed. The major diagnostic parameters that have to be taken in to consideration are:
Careful analysis has to be done in differentiating respiratory distress condition and bronchopulmonary dysplasia through X-rays as both have significant appearance radiologically. One of the diagnostic identifications includes the oxygen dependency of the patient after initial treatment, as this enables evaluation of the lung functionality in the long term. Other tests that add relevance to the diagnosis include arterial blood gas estimation in case of cyanosis, pulse oxymetry and CT scan.
Treatment of Bronchopulmonary Dysplasia
One of the early ways to treat bronchopulmonary dysplasia was to administer systemic steroids. This method was practiced to minimize ventilator utilization. The only disadvantage was the onset of adrenal suppression; hence the dosage pertaining to these steroids was reduced and was given in combination with hydrocortisone to balance the cortisol levels.
Diuretics are also advised. Inflammation associated with bronchopulmonary dysplasia is treated with inhaled nitric oxide therapy as it facilitates the process of vasodilation. Other treatment options include the administration of vitamin A and E to facilitate free radical removal and enhance immunity. Nutrition is an important factor as it meets the demands of the increased energy levels in these babies and also provides the antioxidants to remove the free radicals formed during metabolic pathways.
Chondrodystrophy is a genetic disorder that affects the skeletal cartilage resulting in dwarfism. Due to genetic mutation affecting the hyaline cartilage, skeletal dysplasia occurs leading to osteoarthritis. The person suffering from this disorder has a normal sized trunk with shorter limbs. Chondrodystrophy is usually accompanied by metabolic and hormonal disorders. Usually x-rays and bone growth patterns are studied to diagnose Chondrodystrophy.
Achondroplasia is a significant genetic disorder of the bone. The word achondroplasia actually means 'without cartilage'. It is a congenital abnormality. The condition of achondroplasia is marked by disproportional development of bones resulting in defects affecting the appearance of a person. Achondroplasia predominantly occurs in infants because of the inheritance of genes associated with skeletal dysplasia also known as short stature syndrome.
The incidence of achondroplasia is dependent on the fibroblast growth factor receptor 3 (FGFR3) protein which is responsible for bone development. The faulty coding of FGGR-3 produced by the FGFR3 gene results in achondroplasia. The inheritance of the faulty gene FGFR3 in a family resulting in achondroplasia is called as autosomal dominant inheritance. The primary defect of this condition is caused because of the abnormal chondrocyte proliferation at the growth plate region. This proliferation process results in the formation of short and proportionately thick and long bones.
The manifestation of this is predominantly seen in the proximal regions such as large head because of intramembranous ossification, lumbar lordosis and saddle nose appearance (mid face hypoplasia). In case of severe spinal deformity, cord compression is noticed. The achondroplastic disorder pertaining to the homozygous nature is more lethal in infants than the sporadic form. Other cases such as pseudoachondroplasia resemble achondroplasia but it does not have skull abnormalities.
Diagnosis and treatment
The diagnosis of achondroplasia is usually done at an early stage. The child is examined for abnormalities affecting bone development. Gene assays are also done to detect the presence of the FGFR-3 mutated genes. In many cases congenital anomalies are also considered a diagnostic measure.
Corrective treatment measures are taken in children who are susceptible to achondroplasia. The child is monitored on a regular basis to identify the abnormalities in bone development and growth processes. Emphasis during observation and treatment is given to the development of head and spine to notice conditions such as hydrocephalus and foramen magnum abnormalities. In case of hydrocephalus, the neurosurgeon drains out the excess fluid through a shunt to reduce the pressure caused to the brain.
Abnormalities of spinal cord are very significant factors determining the onset of cord compression. Some of the characteristic features of spinal cord compression include snoring, sleep apnea in infants and also reduced muscle tone. In such cases, the fluid is drained to reduce the pressure on the spinal cord. Where there is occurrence of Kyphosis, also known as small hump, surgical intervention is done to rectify the condition. Other significant procedures involve drainage from ears to prevent infections and also dental procedures to reduce overcrowding of teeth.
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Bibliography / Reference
Collection of Pages - Last revised Date: May 30, 2020