Your lungs > Children's Lung Diseases > Inherited children's diseases
Inherited children's diseases
- Cystic fibrosis
Cystic fibrosis (CF) is a common inherited disease affecting over 9,000 children and adults in the UK. The faulty gene causing CF is recessive, which means you need one faulty gene from each parent to inherit the disease. This gene controls the movement of salt and water in and out of the body’s cells. In CF too much salt and not enough water passes into the cells. This affects many of the body's secretions. The airways, other tubes and secretions function poorly. The internal organs particularly affected are the lungs, bowel, pancreas and liver. Respiratory problems include bronchitis, bronchiectasis (see below for explanation), pneumonia, sinusitis, nasal problems and pneumothorax (see below). The development of lung damage is responsible for the chronic cough with sputum and increasing breathlessness; it will shorten life. The lung problems in CF are treated with chest physiotherapy, antibiotics for chest infections and medication to thin the very thick sputum. Often, some asthma is associated, which is treated in the usual way, mainly with inhaled medicines. The lack of enzymes normally produced by the pancreas gland, results in malnutrition and fatty diarrhoea unless treated and also often in diabetes; a variety of enzymes are given to digest fat, improve bowel motions and help absorption of vital nourishment. Insulin is often needed. A diet with plenty of protein and calories is important to keep the weight from falling and added vitamins are also needed. Other medications are given to treat liver disease. The outlook for CF has greatly improved over the past 40 years, thanks to the better care the children get during early life. Most children born with CF today will be expected to live into their 50’s or 60’s; few born in the 1960’s lived into adult life.
- Primary ciliary dyskinesia (PCD): Also known as immotile cilia syndrome
This is a rare recessive disease (approximately 1 in 20,000 births), in which the tiny hairs (cilia) lining the bronchial tubes do not function properly. Normally these hairs beat rhythmically to move mucus up the breathing tubes (airways or bronchi) towards the mouth so that it can either be swallowed or coughed up. In PCD the mucus is not cleared effectively and so it blocks the breathing passages. The condition presents with chronic sinusitis, ear infections and a chronic (long-term) cough. It may be difficult to diagnose.
- Kartagener’s syndrome
This is a variant of PCD. It consists of chronic sinusitis, reversal of the normal position of the heart (the heart is rotated and lies more on the right side of the chest), bronchiectasis (see later) and male sterility.
- Inherited connective tissue disorders
- Marfan’s syndrome; this condition results from the inheritance of an abnormal gene involved in the production of fibrillin, essential for the formation of elastic fibres in connective tissue. 10% patients develop respiratory problems, including pectus excavatum, kyphoscoliosis, emphysema, bronchogenic cysts and pneumothorax as well as obstructive sleep apnoea (see later for explanations of all of these). Apnoea is probably due to both anatomical abnormalities and collapsibility occurring in the airways during sleep. - Ehlers-Danlos syndrome; is characterised by extra mobility of joints, skin extensibility and tissue fragility. There may be general weakness (including respiratory muscles) and other respiratory symptoms similar to those in Marfan’s syndrome
- Inborn errors of metabolism
These conditions are extremely rare but they may occasionally cause respiratory problems
- Mucopolysaccaridosis; a group of inherited conditions in which mucopolysaccarides (complex carbohydrate molecules) are deposited in many organs. Deposits in the lungs are rare but can cause lung fibrosis, upper airways obstruction resulting in Obstructive Sleep Apnoea (OSA), repeated chest infections or pulmonary hypertension (see later for explanations)
- Nieman-Pick disease; there is deposition of fats called syringo-lipids in lung, liver, spleen, brain and bone marrow.
- Familial dysautonomia (Riley-Day syndrome); a rare autosomal recessive disease seen almost always in children of Ashkanazi Jewish descent. During development, there is loss of certain nerves which results in un-coordinated swallowing, inhalation of stomach contents, production of too much saliva (spit) and repeated chest infections
- Gaucher’s syndrome; there are several types of Gaucher’s disease which have an autosomal recessive inheritance. Harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain.
