Please click below for the most up-to-date
Guidelines for Diagnosis and Treatment of SDS.
This Consensus paper was authored by many of the medical advisors for SDSF as well as other international experts on SDS. The components were tabulated by Dr. Johnson Liu and published by the Annals of New York Academy of Sciences. It can be accessed for free at Pub Med.
SDSF advises that you print it/email it to give to your current or future doctors.
consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
Yigal Dror,1 Jean Donadieu,2 Jutta Koglmeier,3 John Dodge,4 Sanna Toiviainen-Salo,5
Outi Makitie,5 Elizabeth Kerr,1 Cornelia Zeidler,6 Akiko Shimamura,7 Neil Shah,3
Marco Cipolli,8 Taco Kuijpers,9 Peter Durie,1 Johanna Rommens,1 Liesbeth Siderius,10
and Johnson M. Liu11
1The Hospital For Sick Children, University of Toronto, Ontario, Canada. 2Trousseau Hospital, Paris, France. 3Great Ormond
Street Hospital and Institute of Child Health, London, UK. 4University of Wales Swansea, UK. 5Helsinki University Hospital and
Children’s Hospital, University of Helsinki, Helsinki, Finland. 6Hannover Medical School, Hannover, Germany. 7Fred
Hutchinson Cancer Research Center, University of Washington, Seattle, Washington. 8Cystic Fibrosis Center, Ospedale Civile
Maggiore, Verona, Italy. 9Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, the Netherlands.
10Youth Health Care, Meppel, the Netherlands. 11The Feinstein Institute for Medical Research, Cohen Children’s Medical
Center of NY, Manhasset and New Hyde Park, NY
Address for correspondence: Johnson M. Liu, MD, The Feinstein Institute for Medical Research, Cohen Children’s Medical
Center of NY, Room 255, New Hyde Park, NY 11040, Jliu3@NSHS.edu
First described in 1964, Shwachman-Diamond Syndrome is a rare disease which mainly involves the pancreas, bone marrow and skeleton, but other organs may also be affected. Next to Cystic Fibrosis, it is the most common cause of pancreatic insufficiency in children. For that reason, it is sometimes confused with Cystic Fibrosis; but in children with Shwachman-Diamond Syndrome the sweat test is either normal or indeterminatev- but not usually positive for CF. People with Shwachman-Diamond Syndrome usually have a decreased ability to digest food because the cells of the pancreas, in which digestive enzymes are produced, do not work properly. Additionally, there is usually a decreased number of at least one kind of blood cells. In some patients, there is a decrease in all kinds of blood cells. Most frequently, this decrease occurs in the number of neutrophils, the blood cell that is necessary to fight bacteria infections.
Shwachman-Diamond syndrome is a genetic, autosomal recessive condition. The inheritance is supported by the presence of more than one affected patient in a family. Males and females are affected with equal frequency. However, the factors which lead to multi-system diseases are unknown. (For information regarding the finding of the affected gene responsible for SDS go to SDS Gene Info. tab)
Infants often become ill with symptoms by the age of four or six months old. Early problems include failure to thrive, feeding problems and recurrent infections. Growth soon slows and remains below normal; only a few children show growth beyond the third percentile. Infections are present early in at least 85% of children. These occasionally lead to death. Diagnosis is generally made in the first few years of life, although occasionally diagnosis is delayed.
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This article is general information for educational purposes.
Please consult a qualified physician for diagnosis and treatment.