Durban - What a newborn should taste like from a kiss, or smell like from a cuddle, is debatable, but salty is surely not on that list.
However, it is one of the earliest tell-tale symptoms of cystic fibrosis, which, among other things, causes the body to lose large amounts of salt through sweat which results in an imbalance of minerals in the body.
Cystic fibrosis is an inherited, life-threatening disease for which there is currently no cure.
Alan Dunn, chairman of the South African Cystic Fibrosis Association (Safca) said it affects the lungs, pancreas, liver, intestines, sinuses and sex organs – making normally thin or slippery secreted fluids thick and sticky.
As thick mucous builds up in the lungs, it makes it more difficult for the patient to breathe. Thick mucus also provides an environment which allows for bacteria to grow, which would cause infections.
Sticky secretions in the pancreas can also prevent necessary digestive enzymes from reaching your intestines, which interferes with the digestion of food.
In South Africa, the condition is believed to be the reason for a number of deaths in children who are said to die of malnutrition or pneumonia.
While the disease may be detected from birth, there are adults living with cystic fibrosis, male and female of all racial and ethnic groups. However, the disease is most common among whites.
In South Africa, the incidence of cystic fibrous is one in every 2 800 white babies, one in every 10 000 coloured babies, and one in every 32 000 black babies.
Cystic fibrosis is caused specifically by a mutation in the gene which helps the body to create sweat, mucus and digestive juices. If a child inherits a copy of the defective gene from both the mother and the father, the child will have cystic fibrosis.
Dunn said men who have cystic fibrosis are generally infertile because there is a blockage or absence of the vas deferens. The vas deferens is a tube that delivers sperm from the testes to the penis.
Although women with cystic fibrosis may have diminished fertility, they can conceive normally, but this needs to be in consultation with a specialist.
Signs and symptoms include frequent coughing, lung infections, sinusitis, bronchitis and pneumonia.
The digestive system is affected by mucus which blocks tubes or ducts in the pancreas.
This blockage can prevent digestive enzymes from reaching the abdomen, resulting in diarrhoea or bulky, foul-smelling, greasy stools; intestinal blockage in newborns; pancreatitis (inflammation of the pancreas); and diabetes (because the pancreas cannot release insulin any longer).
Cystic fibrosis can also cause clubbing (enlargement or rounding of the fingertips and toes) and low-bone density (osteoporosis). Clubbing develops later in the progression of the disease because the lungs aren’t moving enough oxygen into the bloodstream.
Diagnosis is primarily by a simple, inexpensive and painless sweat test conducted anything from four to six weeks after birth.
Treatment of cystic fibrosis includes antibiotics (often intravenous), mucolytic agents, digestive enzyme supplements, nebulisation, physiotherapy and nutritional management.
Cystic fibrosis is treated at specialist treatment units both in state hospitals and private practices. It is not included as part of the Chronic Diseases List (CDL), and therefore only some medical aid plans give comprehensive coverage.
Dunn said state hospitals provide a certain level of treatment for those who are not able to afford to be on a medical aid, but the state provides insufficient financial support in terms of staffing and equipment, and medicine shortages do occur. Safca is having to fund doctors and equipment to ensure proper treatment at state hospitals.
Gene-based therapies are currently undergoing trials and, as they are mutation specific, it is recommended that those with cystic fibrosis be tested to determine which mutations they have.
Identification of the mutations is sometimes problematic as the number of mutations is estimated at 1 800, but standard test kits do not pick up the majority of mutations encountered in people with cystic fibrosis.
The Mercury