This UK consensus guideline provides a practical approach to the assessment and management of type 2 diabetes and associated complications in children and young people.
Multisystem involvement in Turner syndrome makes the transition from pediatric to adult care very challenging. Explore guidance on all aspects of transition and referral.
Recent guidelines stress the need to identify genotype and phenotypic features in children and adolescents with inherited aortopathies. Echocardiography can be used for early identification and appropriate management of young patients.
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An expert-led symposium exploring the prevention and management of type 2 diabetes through dietary interventions. Highlights include discussion of the recent EASD guidelines, therapeutic diets, food types and processing, plus psychological factors that influence patient success, and the drivers of healthy eating and diabetes control.
Familial chylomicronemia syndrome is a monogenic form of severe hypertriglyceridemia that increases the risk of pancreatitis. In this case, two brothers had familial chylomicronemia syndrome caused by rare GPIHBP1 deletions.
A diagnosis of glycogen storage disease type IX is easy to overlook, but it should be considered in children presenting with unexplained hepatomegaly and elevated transaminase levels. Genetic analysis is vital for accurate diagnosis.
This case series reports the use of advanced hybrid closed-loop technology with diluted insulin in four very young children with a low total daily dose of insulin, including a premature neonate with transient neonatal diabetes.
Storage disorders are a group of inborn errors of metabolism caused by the defective activity of lysosomal enzymes or transporters. All of these disorders have multisystem involvement with variable degrees of neurological features. Neurological …
Tauopathies are a heterogeneous group of neurologic diseases characterized by pathological axodendritic distribution, ectopic expression, and/or phosphorylation and aggregation of the microtubule-associated protein TAU, encoded by the gene MAPT.
Gaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in the GBA gene. It is classified into three main phenotypes according to the patient’s clinical presentation. Of these, chronic neuronopathic GD (GD3) is …
Disorders of sex development (DSDs) are very frequently encountered in ancient Greek mythology. One of the most striking types of DSD described in many myths is gender transformation wherein a female becomes a male or vice versa. Herein, we …
Stay up to date with the rapidly changing CGM landscape. Learn how to implement and integrate CGM into diabetes management to improve patient care and outcomes.
Join Prof. Martin Savage and expert colleagues for this series of interviews exploring how to successfully implement precision medicine into the management of pediatric endocrine disorders.
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lipid storage disease characterized in a majority of cases by progressive neurological deterioration leading to premature death, and (hepato)splenomegaly; its estimated …
Gaucher disease (GD) is a rare autosomal recessive genetic disorder caused by a pathogenic variation in the GBA1 gene [ 1 ]. GD is the most common lysosomal storage disorder with an estimated incidence of around 1 in 40,000–60,000 individuals in …
Among the more than 70 types of lysosomal storage disorders (LSDs) identified to date, Gaucher disease (GD; MIM 230800, 230900, and 231000 for types 1, 2, and 3, respectively) is one of the most common types [ 1 – 3 ]. It is an autosomal recessive …
Acid Sphingomyelinase Deficiency (ASMD; alternatively known as Niemann–Pick Disease Types A, B and A/B, OMID# 257,200 and 607,616) is an ultra-rare multisystem genetic disorder caused by pathogenic variants of the SMPD1 gene. Clinical features …
