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1.
JOURNAL OF RARE DISEASES ; (4): 347-351, 2022.
Article Dans Anglais | WPRIM | ID: wpr-1005026

Résumé

Shwachman-Diamond syndrome is a multisystem autosomal recessive disorder characterized by pancreatic and bone marrow abnormalities with frequent liver involvement.Patients with SDS display aminotransaminase elevation and hepatomegaly in their early childhood. For most of the patients, the syptoms tend to improve as they grow. However, a number of the children with progress into cirrhosis even liver failure, and the prognosis is poor.This paper summarizes advances in the epidemiology, pathogenesis, clinical manifestations, and diagnosis and treatment of hepatopathy in Shwachman-Diamond syndrome.

2.
Journal of Clinical Pediatrics ; (12): 540-542, 2017.
Article Dans Chinois | WPRIM | ID: wpr-613667

Résumé

Objective To analyze the gene abnormality and liver pathology in Shwachman-Diamond syndrome (SDS) in a child. Method The clinical data of one child with SDS were analyzed retrospectively. Result A male patient was 1 month old at onset with neutrophil decrease as the first manifestation, accompanied by anemia, elevated transaminase and repeated infection. Exocrine pancreatic dysfunction was atypical. Pathological examination of liver biopsy showed slight damage of liver cells under light microscope. The blood samples of child and parents were collected, and homozygous mutations of SBDS (NM_016038.2) Intron2 c.258+2T>C p.? were detected by two generation gene sequencing. And these mutations were from both his parents. Conclusion Gene testing is helpful in diagnosing SDS and we suggest that liver biopsy should be performed if condition allows.

3.
Korean Journal of Pediatrics ; : 337-344, 2014.
Article Dans Anglais | WPRIM | ID: wpr-188736

Résumé

Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs have identified multiple genes associated with IBMFSs and their pathways: genes involved in ribosome biogenesis, such as those associated with Diamond-Blackfan anemia and Shwachman-Diamond syndrome; genes involved in telomere maintenance, such as dyskeratosis congenita genes; genes encoding neutrophil elastase or neutrophil adhesion and mobility associated with severe congenital neutropenia; and genes involved in DNA recombination repair, such as those associated with Fanconi anemia. Early and adequate genetic diagnosis is required for proper management and follow-up in clinical practice. Recent advances using new molecular technologies, including next generation sequencing (NGS), have helped identify new candidate genes associated with the development of bone marrow failure. Targeted NGS using panels of large numbers of genes is rapidly gaining potential for use as a cost-effective diagnostic tool for the identification of mutations in newly diagnosed patients. In this review, we have described recent insights into IBMFS and how they are advancing our understanding of the disease's pathophysiology; we have also discussed the possible implications they will have in clinical practice for Korean patients.


Sujets)
Humains , Anémie de Blackfan-Diamond , Biogenèse des organelles , Cellules sanguines , Moelle osseuse , Diagnostic , ADN , Dyskératose congénitale , Anémie de Fanconi , Études de suivi , Leukocyte elastase , Neutropénie , Granulocytes neutrophiles , Phénotype , Réparation de l'ADN par recombinaison , Ribosomes , Télomère
4.
Journal of Korean Medical Science ; : 142-145, 2008.
Article Dans Anglais | WPRIM | ID: wpr-222188

Résumé

Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea.


Sujets)
Enfant d'âge préscolaire , Femelle , Humains , Caries dentaires/génétique , Dysostoses/génétique , Insuffisance pancréatique exocrine/génétique , Mutation , Neutropénie/génétique , Pedigree , Syndrome
5.
Korean Journal of Pediatrics ; : 900-903, 2004.
Article Dans Coréen | WPRIM | ID: wpr-148788

Résumé

Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia and a high risk of development of leukemia. We report a case of SD syndrome in a 10-year-old boy who presented with failure to thrive and myelodysplastic syndrome.


Sujets)
Enfant , Humains , Mâle , Moelle osseuse , Maladies de la moelle osseuse , Insuffisance pancréatique exocrine , Retard de croissance staturo-pondérale , Leucémies , Syndromes myélodysplasiques , Neutropénie
6.
The Korean Journal of Internal Medicine ; : 204-206, 2002.
Article Dans Anglais | WPRIM | ID: wpr-204924

Résumé

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine) and reached complete remission of leukemia. After induction chemotherapy, she underwent allogeneic bone marrow transplantation (BMT). The BMT preparative regimen consisted of total body irradation (TBI) followed by cyclophosphamide. Cyclosporin A and short term methotrexate were used for graft-versus-host disease prophylaxis. After a follow-up of 12 months, she is alive leukemia free off any immunosuppressive agent. Although experience in this field is scarce, we speculate that bone marrow failure in SDS is an indication for BMT which is the only curative trentment option.


Sujets)
Adulte , Femelle , Humains , Transplantation de moelle osseuse , Transformation cellulaire néoplasique , Leucémie aigüe myéloïde/anatomopathologie , Syndromes myélodysplasiques/complications , Insuffisance pancréatique exocrine/complications , Syndrome , Transplantation homologue
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