Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine

Aim:During the coronavirus disease-2019 (COVID-19) pandemic, visiting the hospital and getting regular infusions can be difficult for patients with chronic illnesses. Telemedicine may offer a good option for the management of chronic diseases such as lysosomal storage diseases (LSD).Materials and Methods:LSD patients at the Unit of Metabolic Diseases of Ege University were contacted by phone between April, 2020 and March, 2021 during the COVID-19 pandemic. Telemedicine appointments were performed at intervals every month or three months, depending on the patients’ compliance with their treatment.Results:Ninety-two LSD patients [Mucopolysaccharidosis (MPS) I, MPS II, MPS IVA, MPS VI, MPS VII, Gaucher, Fabry, and Pompe] were included in this study. The total skipped treatment rate within one year was 17.1%. Most of the months of interruption were consonant with the time of social isolation. The treatment interruption in patients under 18 years was lower than in patients over 18 years. A positive correlation was detected between the age of patients and the interruption of treatment.Conclusion:The curfew periods might be one of the causes of missed treatment sessions. Telemedicine is a good method to improve the continuity of treatment. This study showed that the number of interrupted enzyme replacement treatments could be decreased via ongoing telemedicine appointments

Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.

Introduction: Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. Case Report: A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was no hypoglycemia. Development and growth were normal. In the last month, the onset of generalized edema was reported. Urinalysis showed a high protein level. He had low serum albumin, high serum triglycerides cholesterol. Complement levels were normal. The patient was diagnosed as minimal change disease with a renal biopsy. He was treated with oral prednisone. Discussion: Minimal Change Disease is the most common cause of idiopathic nephrotic syndrome cases in children and the first step for therapy is the usage of corticosteroids. This is the first report of nephrotic syndrome associated with GSD IXb disease

Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb

Glycogen storage disorder (GSD) IXb is characterized by liver and muscle involvement. We present a GSD IXb patient with an incidental union of nephrotic syndrome. A 4 year-old-patient was diagnosed with GSD IXb at 13 months of age with mildly elevated transaminases and hepatomegaly. During the follow-up period, there was no hypoglycemia. Development and growth were normal. In the last month, the onset of generalized edema was reported. Urinalysis showed a high protein level. He had low serum albumin, high serum triglycerides cholesterol. Complement levels were normal. The patient was diagnosed as minimal change disease with a renal biopsy. He was treated with oral prednisone. Minimal Change Disease is the most common cause of idiopathic nephrotic syndrome cases in children, and the first step for therapy is the usage of corticosteroids. This is the first report of nephrotic syndrome associated with GSD IXb disease

Relationship between Abdominal Aortic Intima Media Thickness and Central Obesity in Children

Background: Childhood obesity is one of the important risk factors for early atherosclerosis. We aimed to evaluate the effect of obesity on abdominal aortic intima media thickness (aaIMT) in children. Methods: We consecutively recruited 60 obese and 28 healthy children from the outpatient clinic of pediatrics. In all patients, BMI, waist circumference (WC) and hip circumference (HC) were measured, and fasting serum lipid profile, plasma glucose and plasma insulin were studied. Homeostasis model assessment-estimated insulin resistance (HOMA-IR) was calculated for the obese group. All children underwent ultrasonography to evaluate hepatosteatosis and to measure aaIMT. Results: There was a significant difference between the groups in terms of aaIMT, insulin, glucose, HOMA-IR, total cholesterol, low-density lipoprotein, triglyceride and hepatosteatosis. aaIMT was 1.12 +/- 0.25 and 0.61 +/- 0.18 mm in the obese and nonobese groups, respectively (p < 0.001). In the obese group, there was a positive correlation between aaIMT and WC, WC/height ratio, BMI, HC and hepatosteatosis (p < 0.05 for all), with the highest significance for WC. Conclusions: This study showed that aaIMT was significantly higher in obese children than in nonobese children, and that WC was a strong predictor for aaIMT. Early detection of an increased aaIMT in obese children may guide the follow-up of these patients in terms of developing atherosclerosis and its complications. (C) 2015 S. Karger AG, Base