ESPE Abstracts

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disease characterized by disorders of fatty acid, branched-chain amino acid and energy metabolism. It can be manifested as hypoketo hypoglycemia, metabolic acidosis, muscle weakness, cardiomyopathy and so on. In terms of treatment, patients with MADD need to rely on a high-carbohydrate, low-fat and low-protein diet to improve energy metabolism disorders. At present, there are no clinical reports of MAD...

Objective: Growth hormone deficiency (GH) is one of the most common complications in postoperative survivors of craniopharyngioma (CP), which is closely related to short stature. recombinant human growth hormone (rhGH) is often used to correct short stature in survivors after CP in children, but its safety is still controversial on the one hand, and its effect on glucose and lipid metabolism is unclear on the other hand. The purpose of this study is to monitor...

Previous studies have found that the incidence of postoperative metabolic diseases (such as obesity, cardiovascular diseases and diabetes) in patients with craniopharyngioma (CP) is high, which seriously affects the long-term quality of life of patients. At present, few data on postoperative glucose and lipid metabolism in patients with CP, and the results of different studies are heterogeneous. The purpose of this study is to monitor the glucose and lipid metabolism indexes a...

Objective: To investigate the characteristics of glucose metabolism in children with β-thalassemia major (β-TM) after allogeneic hematopoietic stem cell transplantation (HSCT), and to identify the factors that influence abnormal glucose metabolism after HSCT for children with β-TM.Methods: A total of 41 children with β-TM who underwent HSCT at Hematopoietic Stem Cell Transplantation Department of Chil...

Objective: To report a family with MODY2 associated with GCK gene mutation and improve clinicians' understanding of this gene mutation.Methods: The clinical manifestations, laboratory examinations and genetic test results of a MODY2 family diagnosed and treated in our hospital were analyzed retrospectively, and the related literatures were reviewed.Results: The patient is a 6-...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

Objective: To establish INS-1 cell iron overload model, and study the effect on proliferation, insulin-secretion and oxidative stress change.Methods: INS-1 cells were cultured in either normal or high glucose medium. Both groups were treated with different concentrations of (5, 10, 20, 40, 80 μmol/l respectively) of ferric ammonium citrate (FAC). Number and state of the cells were detected by trypan blue staining. Labile iron pool (LIP) were calcula...

Background: Growth failure and abnormal plasma glucose level are common in patients with thalassemia major (TM), which are usually due to iron overload after repeated blood transfusion. Patients after successful bone marrow transplantation (BMT) will be free from further blood transfusion and thus spared from complications of iron overload. This study aimed at determining the incidence of abnormal glucose level in TM patients and studying the height difference between the TM p...

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. This study aimed at determining the incidence of diabetes mellitus (DM) and studying the potential factors responsible for secondary DM of TM patients.Objective and hypotheses: A total of 54 (33 male) transfusion-dependent TM patients were in the ‘TM group ’; 25 age- and gender-matched healthy children were recruited as the &#145...