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Shwachman Syndrome

SDS


Presentation

  • […] not always, an isochromosome but may arise from a more complex mechanism, retaining part of the short arm; (2) the i(7)(q10) has no preferential parental origin; (3) clonal chromosome changes, such as chromosome 7 anomalies and del(20)(q11), may be present[ncbi.nlm.nih.gov]
  • SDS may present with either malabsorption, or hematological problems. Rarely, SDS may present with skeletal defects, including severe rib cage abnormalities that lead to difficulty in breathing.[en.wikipedia.org]
  • At diagnosis, growth retardation was present in all patients, and all subjects showed pancreatic insufficiency.[doi.org]
  • About 1/3 of patients present such complications, and some can be treated successfully by bone marrow transplant. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or malabsorption.[scholars.northwestern.edu]
Anemia
  • Blood analysis shows neutropenia (absolute neutrophil count Differential diagnosis Differential diagnoses include cystic fibrosis, Pearson syndrome, Fanconi anemia, Johanson-Blizzard syndrome, Blackfan-Diamond anemia, celiac disease, and autosomal recessive[orpha.net]
  • These patients, however, exhibited many features similar to other constitutional hematologic disease, such as Fanconi's anemia, which are atypical for Shwachman syndrome.[ncbi.nlm.nih.gov]
  • Anemia (low red blood cell counts) and thrombocytopenia (low platelet counts) may also occur.[en.wikipedia.org]
  • Neutropenia occurred in 98%, anemia in 42%, and thrombocytopenia in 34%. Myelodysplasia or cytogenetic abnormalities were reported in 7 patients. Short stature with normal nutritional status was a prominent feature.[ncbi.nlm.nih.gov]
  • Abstract Juzen-taiho-to (a Japanese herbal medicine) has been traditionally administered to patients with anemia, neutropenia, or wasting syndrome.[ncbi.nlm.nih.gov]
Short Stature
  • Lipomatosis of the pancreas found on MR and CT and the clinical findings pancytopenia, short stature, and recurrent infections are typical for Shwachman syndrome.[ncbi.nlm.nih.gov]
  • stature, and skeletal changes.[medical-dictionary.thefreedictionary.com]
  • Growth retardation: More than 50% of patients are below the third percentile for height, and short stature appears to be unrelated to nutritional status.[en.wikipedia.org]
  • Short stature with normal nutritional status was a prominent feature. CONCLUSIONS: Clinical features among patients with Shwachman syndrome varied between patients and with age.[ncbi.nlm.nih.gov]
Malnutrition
  • Other rarer causes of pancreatic exocrine insufficiency include severe malnutrition, Pearson syndrome, Johanson-Blizzard syndrome and Jeune syndrome.[dx.doi.org]
  • As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome .[ghr.nlm.nih.gov]
  • Steatorrhea is noted in the first 6 months of life in about 50% of affected children and increases to 90% by the age of one. (5) Steatorrhea and malabsorption might lead to malnutrition and fat-soluble vitamin deficiency (A, D, E, K). (4) Hematological[signavitae.com]
  • Thus, patients typically present in early infancy with malabsorption, steatorrhea, failure to thrive, and deficiencies of fat-soluble vitamins A, D, E, and K. [3, 4] Symptoms of malnutrition typically develop when more than 98% of pancreatic reserve is[emedicine.com]
Recurrent Otitis Media
  • Although initially relating the beginning of her infections to mold exposure over the previous four years, the patient had experienced frequent respiratory tract infections since childhood, including recurrent otitis media, mastoiditis, and two episodes[journals.plos.org]
Increased Susceptibility to Infections
  • Affected individuals with neutropenia may also have additional abnormalities believed to result from an increased susceptibility to infections.[rarediseases.org]
Steatorrhea
  • Pancreatic lipase secretion was assessed in 3 patients with steatorrhea and 5 without steatorrhea (73% of the surviving patients) using a sensitive assay which used maximum stimulation with colipase.[ncbi.nlm.nih.gov]
  • Steatorrhea was present in 86% (57 of 66), and 91% (78 of 86) displayed a low serum trypsinogen concentration. Patients older than 4 years more often had pancreatic sufficiency.[ncbi.nlm.nih.gov]
  • Exocrine pancreatic insufficiency results in failure to thrive, growth retardation, and chronic steatorrhea.[orpha.net]
  • Steatorrhea is noted in the first 6 months of life in about 50% of affected children and increases to 90% by the age of one. (5) Steatorrhea and malabsorption might lead to malnutrition and fat-soluble vitamin deficiency (A, D, E, K). (4) Hematological[signavitae.com]
Hyperkeratosis
  • Morphologic findings were slight, regular acanthosis and severe diffuse hyperkeratosis with variable parakeratosis. The granular layer was thickened. The papillary dermis showed very slight perivascular lymphocyte infiltration.[ncbi.nlm.nih.gov]
Keratosis
  • A 12-year-old boy with Shwachman syndrome had cutaneous involvement characterized by dry skin, perioral dermatitis, and follicular keratosis. Polymorphonuclear motility was decreased.[ncbi.nlm.nih.gov]
Skeletal Dysplasia
  • Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistently observed.[ncbi.nlm.nih.gov]
  • Cole, Skeletal Dysplasias, Genetics of Bone Biology and Skeletal Disease, 10.1016/B978-0-12-387829-8.00021-4, (325-336), (2013).[doi.org]
  • Pathophysiology/Complications CF, cystic fibrosis SDS, Shwachman-Diamond syndrome Shwachman-Diamond syndrome (SDS; OMIM 260400) is a rare autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow failure, skeletal dysplasia,[care.diabetesjournals.org]
  • dysplasias were observed to be associated with SDS in the late 1960s. 8 Subsequently other organs have been noted to be involved in children with SDS, with a wide variety of phenotypes.[dx.doi.org]
Coxa Vara
  • Skeletal manifestations include delayed bone age with marked carpal delay, broad cup-like anterior ribs, metaphyseal irregularities, and coxa vara with short femoral necks.[mirc.rsna.org]
  • Michael has upwards of 10 specialists and battles chronic severe neutropenia, osteoporosis, coxa vara of his hips, kidney issues, growth delay, psychosocial issues, developmental delays, pain and high functioning autism .[chla.org]

Workup

  • On more extensive workup, the second infant proved to have methylmalonic aciduria and was treated. The mother and family were eventually exonerated.[the-medical-dictionary.com]
  • His inital chest X-ray was normal and an aggressive pulmonary workup revealed no evidence of pneumonia. His pulmonary function tests were not significantly different from his pretransplant evaluation.[nature.com]
  • […] article Received 21 September 2001 Revised 31 January 2002 Accepted 19 February 2002 Published 24 May 2002 Issue Date 01 April 2002 DOI Keywords Shwachman-Diamond syndrome 7q11 fine mapping haplotype sharing TPST1 gene exclusion Further reading Diagnostic workup[doi.org]
Delayed Bone Age
  • Bone involvement is characterized by delayed bone age and maturation with metaphyseal dysplasia resulting in short stature, pectus carinatum, and generalized osteopenia.[orpha.net]
  • Skeletal manifestations include delayed bone age with marked carpal delay, broad cup-like anterior ribs, metaphyseal irregularities, and coxa vara with short femoral necks.[mirc.rsna.org]
  • Birth weight is often normal, but more than 50% of patients are still below the 3rd percentile for height when they are one year old. (8) All patients exhibit delayed bone age and delayed puberty.[signavitae.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments.[childrenshospital.org]
  • Treatment for children with SDS includes: pancreatic enzyme supplementation, vitamin supplementation and nutrition monitoring prevention and/or treatment of infections correction of low blood counts when possible prevention of orthopedic deformities close[childrensmn.org]

Prognosis

  • Patients with severe bone marrow involvement may have a guarded prognosis.[ncbi.nlm.nih.gov]
  • Prognosis Prognosis is variable. Life-threatening complications include bone marrow aplasia and leukemic transformation, and occasionally viral infections.[orpha.net]
  • Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure with significant predisposition to the development of poor prognosis myelodysplasia and leukemia, exocrine pancreatic failure and metaphyseal chondrodysplasia[ncbi.nlm.nih.gov]
  • MDS and AML in patients with SDS has a poor prognosis, with a survival rate of 20%. Inborn conditions Rare reports of increase in spontaneous chromosomal breakage.[atlasgeneticsoncology.org]

Etiology

  • Etiology SDS is caused in 95% of cases by mutations in the SBDS gene (7q11.22) encoding a ribosomal protein involved in ribosomal biogenesis and other cellular processes.[orpha.net]
  • Our findings provide insight into the etiology of the developmental defects that result from loss of dSbds function and further strengthen the hypothesis that small molecules that mimic the effects of eIF6 suppressor mutations may have utility in the[nyas.org]

Epidemiology

  • Summary Epidemiology Worldwide prevalence is estimated at about 1/350,000 and birth-prevalence at around 1/200,000 live births. Clinical description SDS shows a variable clinical picture, even within families.[orpha.net]
  • It presents a thorough review of the specific biological, clinical and therapeutic characteristics of cancers in tropical areas, including their background and epidemiology, public health consequences and transcultural mediation.[link.springer.com]
  • Epidemiology of chronic pancreatitis: burden of the disease and consequences. United European Gastroenterol J. 2014 Oct;2(5):345-54. Available online at . Accessed on 3/19/17. Schneider, A. et. al. (2005 May).[labtestsonline.it]
  • Alter, MD, MPH From the Department of Pathology, University of Texas Medical Branch, Galveston, Tex (Dr Elghetany); and the Division of Cancer Epidemiology and Genetics, the National Cancer Institute, Bethesda, Md (Dr Alter) Arch Pathol Lab Med 2002;Vol[thedoctorsdoctor.com]
Sex distribution
Age distribution

Pathophysiology

  • Therefore, a younger SDS infant such as our patient is unlikely to develop diabetes through the same pathophysiological changes in the pancreas as those seen in CF-related diabetes.[care.diabetesjournals.org]
  • Studies to understand the pathophysiology of bone marrow failure are currently underway.[emedicine.medscape.com]
  • Sommi et AL Haematologica. 2012 Jul; 97(7): 1057–106 Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence Gillian A Horne, Timothy Chevassut BMJ Case Rep. 2012; 2012: bcr2012007305 Clinical spectrum and molecular pathophysiology[internetmedica.com.br]
  • Pathophysiologic basis of exocrine pancreatic dysfunction in childhood. J Pediatr Gastroenterol Nutr 2002 ; 35: 8 – 21 . Google Scholar Crossref Medline 11. Bebarry, S , Ellis, L , Corey, M.[dx.doi.org]

Prevention

  • A weekly dose of 2 micrograms/kg/day was able to maintain the absolute neutrophil count high enough (0.58-1.2 x 10(9)/L) to prevent suppurative infections.[ncbi.nlm.nih.gov]
  • Treatment for children with SDS includes: pancreatic enzyme supplementation, vitamin supplementation and nutrition monitoring prevention and/or treatment of infections correction of low blood counts when possible prevention of orthopedic deformities close[childrensmn.org]
  • Shimamura determined that SBDS also functions to stabilize the mitotic spindle and prevent genomic instability (Austin et al ., 2008).[fredhutch.org]
  • As a result, there is a deficiency in the amount of digestive enzymes required to break down food (pancreatic insufficiency), which, in turn, prevents fats and other essential nutrients from being absorbed properly (malabsorption).[rarediseases.org]
  • To prevent a mistaken diagnosis, however, these caregivers must also be able to recognize that many pediatric medical and physical conditions can mimic CAN.[the-medical-dictionary.com]

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