Shwachman-Diamond America is pleased to announce that we have a new booklet available. The title is Management of the Hematologic Abnormalities of Shwachman-Diamond Syndrome by Richard Harris, M.D. This booklet is excellent for parents, pediatricians and specialists. If you would like a copy (or copies) of the booklet sent to you, please send your mailing address to shwachmandiamondamerica@embarqmail.com These booklets are FREE to anyone who requests them. Visit the webstie above to request your free booklet.
The booklet includes sections on the following topics:
Description
History
Diagnosis
Management of Neutropenia
Management of Fevers in SDS patients
Antibiotic coverage prior to Dental Work or Surgical Procedures
Management of other Cytopenias
Management of Anemia during Surgical Procedures
Management of MDS
Management of Leukemia
Bone Marrow Transplantation for SDS
And also includes the following:
K-M Survival Plots
Important Contacts
References
Glossary
All of us at Shwachman-Diamond America would like to take this opportunity to thank Dr. Harris for all of his hard work and dedication to this project. Thank you, Dr. Harris, from the bottom of our hearts! Your dedication to all of our SDS and SDS-like children is appreciated more than you will ever know.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
Thursday, June 19, 2008
Tuesday, June 3, 2008
Diagnostic Critera
Bone Marrow Failure: A Child Is Not Just a Small Adult (But an Adult Can Have a Childhood Disease) Click on the link to access the full-text article. The article says this about SDS:
Patients with Shwachman-Diamond syndrome (SDS, OMIM 260400) usually present in early childhood with malabsorption due to pancreatic insufficiency, and neutropenia.25 However, a substantial proportion go on to develop aplastic anemia, MDS, or leukemia.1 These complications may occur in SDS patients who have reached adult age, and thus may have outgrown the care of a pediatric hematologist.
SDS is an autosomal recessive disorder, in which the majority of the tested patients have been found to have mutations in the Shwachman Bodian Diamond syndrome gene (SBDS) located at 7q11.26 Pancreatic insufficiency can be confirmed by demonstration of low serum trypsinogen in young children, although this may improve with age and be normal in adults with SDS. More specific is a low serum isoamylase, which increases in normal children until age 3 but remains low in older children and adults with SDS.27 The diagnosis of neutropenia requires documentation at least 3 times, but may improve with age. About half of the reported SDS patients had metaphyseal dysostosis, and short stature unrelated to malabsorption is a common component of the syndrome. Approximately 40% of the reported patients with SDS developed additional cytopenias, including aplastic anemia, at up to 35 years of age. SDS patients with neutropenia may respond to G-CSF, while pancytopenia may require androgens and consideration of SCT. Unfortunately, the survival after SCT is around 50%, unrelated to whether the donor is a matched sibling or an alternative donor.1 Deaths were related to complications of MDS or leukemia, as well as to cardiotoxicity from cyclophosphamide.
Availability of mutation testing in the SBDS gene may now facilitate consideration of SDS in adult patients with neutropenia or aplastic anemia who were not diagnosed in childhood, but may have a family history or personal history of symptoms consistent with this diagnosis.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
Patients with Shwachman-Diamond syndrome (SDS, OMIM 260400) usually present in early childhood with malabsorption due to pancreatic insufficiency, and neutropenia.25 However, a substantial proportion go on to develop aplastic anemia, MDS, or leukemia.1 These complications may occur in SDS patients who have reached adult age, and thus may have outgrown the care of a pediatric hematologist.
SDS is an autosomal recessive disorder, in which the majority of the tested patients have been found to have mutations in the Shwachman Bodian Diamond syndrome gene (SBDS) located at 7q11.26 Pancreatic insufficiency can be confirmed by demonstration of low serum trypsinogen in young children, although this may improve with age and be normal in adults with SDS. More specific is a low serum isoamylase, which increases in normal children until age 3 but remains low in older children and adults with SDS.27 The diagnosis of neutropenia requires documentation at least 3 times, but may improve with age. About half of the reported SDS patients had metaphyseal dysostosis, and short stature unrelated to malabsorption is a common component of the syndrome. Approximately 40% of the reported patients with SDS developed additional cytopenias, including aplastic anemia, at up to 35 years of age. SDS patients with neutropenia may respond to G-CSF, while pancytopenia may require androgens and consideration of SCT. Unfortunately, the survival after SCT is around 50%, unrelated to whether the donor is a matched sibling or an alternative donor.1 Deaths were related to complications of MDS or leukemia, as well as to cardiotoxicity from cyclophosphamide.
Availability of mutation testing in the SBDS gene may now facilitate consideration of SDS in adult patients with neutropenia or aplastic anemia who were not diagnosed in childhood, but may have a family history or personal history of symptoms consistent with this diagnosis.
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
Diagnostic Criteria & Minimum Requirements for Follow-up
http://www.shwachmandiamondamerica.org/SDSarticles.html
click on “Shwachman-Diamond Syndrome: UK Perspective
In this article you will see a box that says:
Diagnostic criteria for SDS
Exocrine pancreatic dysfunction (at least one of the
following):
*Abnormal quantitative pancreatic stimulation test
*Serum cationic trypsinogen below the normal range
Abnormal 72 hour faecal fat analysis plus evidence of
*pancreatic lipomatosis by ultrasonographic examination
or computerised tomography
AND
Haematological abnormalities (at least one of the following):
*Chronic (on two occasions at least 6 weeks apart):
single lineage or multilineage cytopenia with bone
marrow findings consistent with a productive defect:
– Neutrophil ,1.56109/l
– Haemoglobin concentration ,2 standard deviations
below mean, adjusted for age
– Thrombocytopenia ,1506109/l
Myelodysplastic syndrome
And a box that says:
Minimum requirements for follow-up:
These should include:
*DNA confirmation of the diagnosis, and offer of
screening to siblings where appropriate
*General clinical review and blood count every
3–6 months
*Serum concentrations of vitamin A, 25-OH vitamin D,
and vitamin E, and prothrombin time six monthly
*Annual review of steatorrhoea and pancreatic enzyme
supplementation
*A surveillance bone marrow, with cytogenetics, performed
annually or biennially
*Dental review at least annually, ideally every three
months, for preventive treatment, cleaning, and plaque
removal. Oral infections must be treated promptly by
local measures and antibiotics
*Review of growth, pubertal development, nutrition, and
gastrointestinal symptoms at least every six months,
with dietetic involvement.
*x ray examinations every five years to review the
evolution of skeletal abnormalities. If there is evidence
of abnormal long bone alignment, referral to an
orthopaedic surgeon may be appropriate
*Psychometric assessment at or before school entry, and
subsequent educational/psychological help as
required
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
click on “Shwachman-Diamond Syndrome: UK Perspective
In this article you will see a box that says:
Diagnostic criteria for SDS
Exocrine pancreatic dysfunction (at least one of the
following):
*Abnormal quantitative pancreatic stimulation test
*Serum cationic trypsinogen below the normal range
Abnormal 72 hour faecal fat analysis plus evidence of
*pancreatic lipomatosis by ultrasonographic examination
or computerised tomography
AND
Haematological abnormalities (at least one of the following):
*Chronic (on two occasions at least 6 weeks apart):
single lineage or multilineage cytopenia with bone
marrow findings consistent with a productive defect:
– Neutrophil ,1.56109/l
– Haemoglobin concentration ,2 standard deviations
below mean, adjusted for age
– Thrombocytopenia ,1506109/l
Myelodysplastic syndrome
And a box that says:
Minimum requirements for follow-up:
These should include:
*DNA confirmation of the diagnosis, and offer of
screening to siblings where appropriate
*General clinical review and blood count every
3–6 months
*Serum concentrations of vitamin A, 25-OH vitamin D,
and vitamin E, and prothrombin time six monthly
*Annual review of steatorrhoea and pancreatic enzyme
supplementation
*A surveillance bone marrow, with cytogenetics, performed
annually or biennially
*Dental review at least annually, ideally every three
months, for preventive treatment, cleaning, and plaque
removal. Oral infections must be treated promptly by
local measures and antibiotics
*Review of growth, pubertal development, nutrition, and
gastrointestinal symptoms at least every six months,
with dietetic involvement.
*x ray examinations every five years to review the
evolution of skeletal abnormalities. If there is evidence
of abnormal long bone alignment, referral to an
orthopaedic surgeon may be appropriate
*Psychometric assessment at or before school entry, and
subsequent educational/psychological help as
required
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
Monday, June 2, 2008
Inherited Pancreatic Disorders of Childhood
From this link: http://www.pancreasfoundation.org/cgi/csNews/csNews.cgi?database=learn_genetics.db&command=viewone&id=1&op=t
Inherited Pancreatic Disorders of Childhood
Peter R. Durie, M.D., FRCPC
There is an extremely wide spectrum of inherited pancreatic disorders in childhood. Depending on the condition symptoms can develop at any time from birth to adulthood. The pancreas makes more than 25 different digestive enzymes which are secreted into the intestine to break down dietary protein, fat and starches into simpler molecules so that they can be absorbed. In fact, the pancreas has a tremendous reserve capacity - more than 95% of the function of the pancreas must be lost before the pancreas fails and symptoms of bloating and maldigestion develop. Children with digestive problems due to failure of the pancreas have to take enzyme replacement therapy with meals as well as additional fat soluble vitamins. The large pancreatic reserve also means that children can have a severe pancreatic problem without experiencing any problems with digestion.
The exocrine pancreas is not fully developed at birth. In fact, all healthy infants show some degree of maldigestion due to the fact that the pancreas is immature and does not have the same ability to produce enough enzymes. This is particularly true for starch and fat digestion. However, the pancreas matures after birth and by two years of age it is functioning in the same way as an adult pancreas. The immature pancreas appears to have no adverse effects on healthy children, but can have a major impact when children become malnourished or very ill.
Cystic fibrosis (CF) is, by far, the most common inherited pancreatic disease of childhood. It accounts for about 90% of childhood onset pancreatic disorders. CF affects many other organs as well and the most common cause of poor health and death is due to progressive lung disease. The CF pancreas begins to get damaged when the affected child is still in the mother’s womb. The small tubes inside the pancreas which allow digestive enzymes to reach the intestine get blocked with mucus and protein and the pancreas became badly scarred and shrinks. Many children with CF have evidence of severe pancreatic failure immediately following birth, and by two years of age 90% of CF are diagnosed - usually with severe malnutrition. Approximately 85% of all people with CF have pancreatic insufficiency and need to take pancreatic enzymes with meals. A lot is known about the genetic cause of CF. The CF gene, which is on chromosome 7, was identified in 1989. The most common CF-disease causing genetic mistake in this gene is called DF508, and is identified in approximately 70% of CF chromosomes worldwide. However, there are more than 1000 additional genetic mistakes in the CF gene, many of which are extremely rare. A lot of research is being done to try to correct the genetic disorder with gene therapy, and to discover ways of getting round the genetic disorder using special drugs.
Shwachman Diamond syndrome (SDS) is the next most common inherited cause of pancreatic failure in childhood. It is much less common than CF and accounts for about 5% of inherited causes of pancreatic disease. This condition also affects other organs including the bone marrow (which makes blood cells), the skeleton and the liver. Children with SDS are very short and are at risk of experiencing severe infections and a particularly severe form of leukemia. Unlike CF, the gene that is responsible for SDS has not yet been identified. However, recent research shows that the SDS gene is also located on chromosome 7. The pancreatic problem is quite different from CF. The cells that make enzymes (acinar cells) don’t develop properly.
After CF and SDS, other causes of inherited pancreatic disease are extremely rare. They include Johansson Blizzard syndrome, Pearson’s bone marrow syndrome and hereditary pancreatitis. It is interesting to note that the hereditary pancreas gene is on chromosome 7 as well. This is a coincidence!
In extremely unusual circumstances a child may be born without any pancreas - which includes both the digestive (exocrine) and insulin producing (endocrine) components of the pancreas. This problem is not compatible with life.
Peter R. Durie, M.D., FRCPCProfessor, Department of PediatricsUniversity of TorontoDivision of Gastroenterology/NutritionHead, CF Research Group, The Research InstituteThe Hospital for Sick Children
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
Inherited Pancreatic Disorders of Childhood
Peter R. Durie, M.D., FRCPC
There is an extremely wide spectrum of inherited pancreatic disorders in childhood. Depending on the condition symptoms can develop at any time from birth to adulthood. The pancreas makes more than 25 different digestive enzymes which are secreted into the intestine to break down dietary protein, fat and starches into simpler molecules so that they can be absorbed. In fact, the pancreas has a tremendous reserve capacity - more than 95% of the function of the pancreas must be lost before the pancreas fails and symptoms of bloating and maldigestion develop. Children with digestive problems due to failure of the pancreas have to take enzyme replacement therapy with meals as well as additional fat soluble vitamins. The large pancreatic reserve also means that children can have a severe pancreatic problem without experiencing any problems with digestion.
The exocrine pancreas is not fully developed at birth. In fact, all healthy infants show some degree of maldigestion due to the fact that the pancreas is immature and does not have the same ability to produce enough enzymes. This is particularly true for starch and fat digestion. However, the pancreas matures after birth and by two years of age it is functioning in the same way as an adult pancreas. The immature pancreas appears to have no adverse effects on healthy children, but can have a major impact when children become malnourished or very ill.
Cystic fibrosis (CF) is, by far, the most common inherited pancreatic disease of childhood. It accounts for about 90% of childhood onset pancreatic disorders. CF affects many other organs as well and the most common cause of poor health and death is due to progressive lung disease. The CF pancreas begins to get damaged when the affected child is still in the mother’s womb. The small tubes inside the pancreas which allow digestive enzymes to reach the intestine get blocked with mucus and protein and the pancreas became badly scarred and shrinks. Many children with CF have evidence of severe pancreatic failure immediately following birth, and by two years of age 90% of CF are diagnosed - usually with severe malnutrition. Approximately 85% of all people with CF have pancreatic insufficiency and need to take pancreatic enzymes with meals. A lot is known about the genetic cause of CF. The CF gene, which is on chromosome 7, was identified in 1989. The most common CF-disease causing genetic mistake in this gene is called DF508, and is identified in approximately 70% of CF chromosomes worldwide. However, there are more than 1000 additional genetic mistakes in the CF gene, many of which are extremely rare. A lot of research is being done to try to correct the genetic disorder with gene therapy, and to discover ways of getting round the genetic disorder using special drugs.
Shwachman Diamond syndrome (SDS) is the next most common inherited cause of pancreatic failure in childhood. It is much less common than CF and accounts for about 5% of inherited causes of pancreatic disease. This condition also affects other organs including the bone marrow (which makes blood cells), the skeleton and the liver. Children with SDS are very short and are at risk of experiencing severe infections and a particularly severe form of leukemia. Unlike CF, the gene that is responsible for SDS has not yet been identified. However, recent research shows that the SDS gene is also located on chromosome 7. The pancreatic problem is quite different from CF. The cells that make enzymes (acinar cells) don’t develop properly.
After CF and SDS, other causes of inherited pancreatic disease are extremely rare. They include Johansson Blizzard syndrome, Pearson’s bone marrow syndrome and hereditary pancreatitis. It is interesting to note that the hereditary pancreas gene is on chromosome 7 as well. This is a coincidence!
In extremely unusual circumstances a child may be born without any pancreas - which includes both the digestive (exocrine) and insulin producing (endocrine) components of the pancreas. This problem is not compatible with life.
Peter R. Durie, M.D., FRCPCProfessor, Department of PediatricsUniversity of TorontoDivision of Gastroenterology/NutritionHead, CF Research Group, The Research InstituteThe Hospital for Sick Children
For information on Shwachman-Diamond Syndrome check out Shwachman-Diamond America
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