THE SHWACHMAN DIAMOND SYNDROME
Shwachman-Diamond syndrome (SDS) is a very rare, congenital genetic disorder (incidence: 1:75,000) and is inherited in an autosomal recessive manner. The parents are carriers and are usually not affected themselves.
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.
Further information for your treating physicians (© kinderblutkrankheiten.de) can be found here.
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The Disease
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
• Increased risk of developing MDS or leukemia with advancing age
Other features may include:
- Severe to life-threatening and frequent infections
Because the bone marrow does not produce enough neutrophils (a type of white blood cell), the body cannot mount a sufficient defense against bacteria during a sever Neutropenia . Even a seemingly harmless infection often leads to more severe illness and consequently, lengthy hospital stays for SDS patients. - Malnutrition and Fat-Soluble Vitamin Deficiency (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, as well as other complications
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 pancreatic insufficiency. irritiert ist.