Abstract:Exocrine pancreatic insufficiency is an important cause of chronic malnutrition, secondary to maldigestion-malabsorption, which can be caused in children especially by cystic fibrosis, but also by other much rarer diseases. The case of a 6 months and 3 weeks old male pediatric patient is reported, who was admitted to the clinic for head and forearms bruising. Laboratory findings identified vitamin K deficiency as the cause of the cutaneous hemorrhagic syndrome. Further investigations revealed association of st… Show more
“…Shwachman-Diamond syndrome (SDS), a rare inherited bone marrow failure syndrome (IBMFS), is an autosomal recessive disorder with clinical features that include a triad of exocrine pancreatic insufficiency, haematological dysfunction and skeletal abnormalities. It is the second most common cause of pancreatic insufficiency after cystic fibrosis [ 1 ]. The most common age of presentation is infancy, with a higher incidence in males.…”
Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS). Cirrhosis at a neonatal age is uncommon and is typically not documented, as in neonatal presentation. Here, we present a case of SDS in which bi-cytopenia with macro-nodular cirrhosis emerged before the age of one month. Utilising genetic testing on the infant and both parents, we were able to confirm the diagnosis. We were expecting a higher-level liver transplant set-up, but the infant passed away in the interim. Genetic studies play a significant part in the diagnosis of difficult cases.
“…Shwachman-Diamond syndrome (SDS), a rare inherited bone marrow failure syndrome (IBMFS), is an autosomal recessive disorder with clinical features that include a triad of exocrine pancreatic insufficiency, haematological dysfunction and skeletal abnormalities. It is the second most common cause of pancreatic insufficiency after cystic fibrosis [ 1 ]. The most common age of presentation is infancy, with a higher incidence in males.…”
Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS). Cirrhosis at a neonatal age is uncommon and is typically not documented, as in neonatal presentation. Here, we present a case of SDS in which bi-cytopenia with macro-nodular cirrhosis emerged before the age of one month. Utilising genetic testing on the infant and both parents, we were able to confirm the diagnosis. We were expecting a higher-level liver transplant set-up, but the infant passed away in the interim. Genetic studies play a significant part in the diagnosis of difficult cases.
“…It is the second most common cause of exocrine pancreatic insufficiency, with a reported incidence of 1 in 75,000 individuals [12] . Biallelic mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are responsible for 90% of SDS patients [13][14][15][16] . Gene conversion between SBDS and its unprocessed pseudogene SBDSP1 results in two most common functional paralogous sequence variants (PSVs), c.183_184delinsCT and c.258+2T>C, on exon 2 [17] .…”
Purpose: Shwachman-Diamond syndrome (SDS) is predominately caused by biallelic mutations in the SBDS gene and is characterized by exocrine pancreatic insufficiency, skeletal abnormalities and pancytopenia. Gene conversion between SBDS and its pseudogene SBDSP1 is the major cause. We established an efficient approach, HapICE, to infer the haplotype of SBDS based on short-read next-generation sequencing (NGS).
Methods: HapICE based on the Expectation-Maximization algorithm was developed to detect variants in exon 2 of SBDS arising from gene conversion. We retrospectively analyzed two common pathogenic variants (c.183_184delinsCT and c.258+2T>C) in suspected SDS patients and compared the results with those from conventional NGS analysis.
Results: In 47 SDS high-risk individuals and 64 available parents, HapICE improved the diagnostic rate by 27.7% compared with conventional methods and revealed 100% (95% CI: 92.5%-100%) concordance with Sanger sequencing. In addition to eighteen patients having consistent genetic results by both methods, HapICE further reported 8 patients with more accurate variant detection and 13 cases with the c.183_184delinsCT variant missing by conventional methods. HapICE also showed better performance in screening for carrier and wild-type status.
Conclusion: We have developed a novel SBDS variant detection tool through regular NGS data that demonstrated precise variant detection performance in clinical scenarios.
ObjectivesThis study aimed to investigate the effect of early administration of delayed-release high-titer pancrelipase.MethodsThe medical records of 120 patients who had undergone pancreatectomy with computed tomography (CT) before and 6 months after surgery were retrospectively reviewed. Delayed-release high-titer pancrelipase were administered daily starting on postoperative day 3, which was defined as the EP group. The postoperative nutritional status and CT attenuation values of the liver were compared between the EP and control groups.ResultsThirty-three patients (28%) were categorized into the EP group. With regard to the postoperative nutritional status 6 months after surgery, the body mass index, total lymphocyte count, and Onodera’s prognostic nutritional index were higher, and controlling nutritional status score was lower in the EP group than that in the control group. The CT attenuation values of the liver were not significantly different. After propensity score matching analysis, body mass index (20.7 vs 19.2, P = 0.049) and Onodera’s prognostic nutritional index (47.9 vs 44.2, P = 0.045) were significantly higher, and controlling nutritional status score was significantly lower in the EP group than that in the control group (1 vs 3, P = 0.046).ConclusionsThe early administration of pancrelipase after pancreatectomy improved nutritional status after pancreatectomy.
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