Contributions
Abstract: PB1754
Type: Publication Only
Background
Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disease characterized with neutropenia, exocrine pancreas insufficiency, failure to thrive and skeletal abnormalities. In approximately 90% of the patients, the molecular defect is related to SBDS gene mutations. The classical triad is present in one-forth of the patients and a high degree of suspicion is required in order to make the diagnosis. In this study, molecular work-up to patients with suspected SDS were made and the clinical and laboratory findings that predict the SDS diagnosis were investigated.
Aims
Methods
The patients who were sent to Hacettepe Inherited Bone Marrow Failure Center for molecular work-up between June 2015 and August 2016 were evaluated with clinical and laboratory data obtained from a standardized patient registry form.
Results
Molecular work-up was performed in 20 patients referred to our center with a suspected diagnosis of SDS. Of these 20 patients (12 girls), 4 (20%) (3 boys) were found to have mutation in SBDS gene. The median age of these patients was 3.2 years (1-18). Of the 4 patients with genetically verified SDS, 1 (25%) had history of chronic diarrhea and pancreas atrophy was detected in ultrasonography of that patient Another patient (25%) with SDS had skeletal abnormality, and 3 (75%) of the patientshad failure to thrive. Three patients (75%) had anemia associated to neutropenia, and 1 patient (25%) had pancytopenia at presentation. On the other hand of the patients who were referred with a suspicion of SDS but was found to have no mutation, 43% had neutropenia, 25% had bicytopenia, 10% had pancytopenia. The patientsin the latter group had failure to thrive in 25% of the patients and chronic or persistent diarrhea was present in 25% of this group. There was no statistically significant difference in the clinical and laboratory parameters of the genetically verified SDS patients and patients without SDS but was referred with SDS suspicion.
Conclusion
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Bone Marrow Failure
Abstract: PB1754
Type: Publication Only
Background
Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disease characterized with neutropenia, exocrine pancreas insufficiency, failure to thrive and skeletal abnormalities. In approximately 90% of the patients, the molecular defect is related to SBDS gene mutations. The classical triad is present in one-forth of the patients and a high degree of suspicion is required in order to make the diagnosis. In this study, molecular work-up to patients with suspected SDS were made and the clinical and laboratory findings that predict the SDS diagnosis were investigated.
Aims
Methods
The patients who were sent to Hacettepe Inherited Bone Marrow Failure Center for molecular work-up between June 2015 and August 2016 were evaluated with clinical and laboratory data obtained from a standardized patient registry form.
Results
Molecular work-up was performed in 20 patients referred to our center with a suspected diagnosis of SDS. Of these 20 patients (12 girls), 4 (20%) (3 boys) were found to have mutation in SBDS gene. The median age of these patients was 3.2 years (1-18). Of the 4 patients with genetically verified SDS, 1 (25%) had history of chronic diarrhea and pancreas atrophy was detected in ultrasonography of that patient Another patient (25%) with SDS had skeletal abnormality, and 3 (75%) of the patientshad failure to thrive. Three patients (75%) had anemia associated to neutropenia, and 1 patient (25%) had pancytopenia at presentation. On the other hand of the patients who were referred with a suspicion of SDS but was found to have no mutation, 43% had neutropenia, 25% had bicytopenia, 10% had pancytopenia. The patientsin the latter group had failure to thrive in 25% of the patients and chronic or persistent diarrhea was present in 25% of this group. There was no statistically significant difference in the clinical and laboratory parameters of the genetically verified SDS patients and patients without SDS but was referred with SDS suspicion.
Conclusion
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Bone Marrow Failure