THE SHWACHMAN DIAMOND SYNDROME
Shwachman Diamond Syndrome (SDS), a very rare congenital genetic disease (incidence: 1: 75,000). autosomal recessively inherited which means that the parents are usually not ill.
Each parent has the same ´spelling error´ on the same gene, which comes together with a chance of 25% when the child is born.
To meet someone in life who has the same gene in them, to father a child with them, with a 25% chance of producing the syndrome, is about like winning the lottery., but not quite as pleasant.
Discovered 1964 by Bodian and colleagues and in the same year first described by Shwachman and Diamond, the Syndrome is one of the little-researched diseases.
The disease is characterized already in childhood by:
- Disorder of bone marrow, hematopoiesis
- lack of formation of digestive enzymes in the pancreas
- Development of leukemia or MDS
Other features may include:
• Severe to life-threatening and frequent infections
Since the bone marrow does not produce enough blood cells, the body cannot offer enough resistance to bacteria, for example in the case of NeutropeniaA harmless infection often leads to dire progress in SDS patients.
• Malnutrition and deficiency of the fat-soluble vitamins ADEK
Due to the lack of digestive enzymes in the pancreas, neither fat can be digested by itself, nor are vital vitamins absorbed. The syndrome is often not recognized until late, so that babies are already suffering from underweight, as the rich breast milk or baby food cannot be used by the intestine.
• Short stature
Shwachman Diamond patients are mostly of a delicate stature.
• Skeletal malformations
For example the thorax. Constriction can lead to massive problems with respiratory infections, since breathing is impaired. But other bones can also be affected.
• Liver and kidney problems and much more
The statistics so far show that the liver values, which are usually too high, level off in adulthood. But not always. It is assumed that there are increased values because the entire gastrointestinal tract is irritated by the Pankreasinsuffizienz irritiert ist..
There is no cure yet
Symptomatic treatment consists of replacing the missing pancreatic enzymes. The patient takes this with every meal so that it can be digested.
Treatment with Neutropenia is used for G-CSF. thrombocytopenia or erothrocytes) are also often affected. The bone marrow can become depleted for a variety of reasons. In addition to leukemia, kann sich ein myelodysplastisches Syndrom (MDS) can also develop. Then a stem cell transplant is necessary, otherwise the body cannot keep itself alive.