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Biomedical subjects

Peter G F Swift

Publications and source records attributed to Peter G F Swift.

6 recordsLinked to original sources
PubMed2003

Rapid onset childhood cataracts leading to the diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

PURPOSE: To report a case of bilateral cataracts in a child that led to diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. DESIGN: Observational case report. METHODS: A 12-year-old boy was being investigated for weakness, lethargy, short stature, and blurred vision. He developed bilateral, dense cataracts over a 2-week period. He was found to be hypocalcemic and diagnosed with hypoparathyroidism and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. RESULTS: Because of hypoparathyroidism, adrenocortical failure, and insulin-dependent diabetes, it was 9 months before the patient's metabolic imbalance was brought under sufficient control to allow cataract surgery. CONCLUSIONS: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy should be considered with diagnoses of hypocalcemic cataract.

Calcium↗
PubMed2003

Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice mutation was found in 5 families of different ethnic backgrounds, and a 12-bp deletion was found in two German families. Fourteen individuals (including the original patient with 'renal glucosuria type 0') were homozygous or compound heterozygous for an SGLT2 mutation resulting in glucosuria in the range of 14.6 to 202 g/1.73 m(2)/d (81 - 1120 mmol/1.73 m(2)/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m(2)/d (24 mmol/1.73 m(2)/d). Likewise, in index cases with glucosuria below 10 g/1.73 m(2)/d (55 mmol/1.73 m(2)/d) an SGLT2 mutation, if present, was always detected in the heterozygous state. We conclude that SGLT2 plays an important role in renal tubular glucose reabsorption. Inheritance of renal glucosuria shows characteristics of a codominant trait with variable penetrance.

DNA Mutational Analysis↗
PubMed2002

Insulin injection regimens and metabolic control in an international survey of adolescents with type 1 diabetes over 3 years: results from the Hvidore study group.

UNLABELLED: The optimal insulin regimen for paediatric patients with type 1 diabetes remains controversial. Therefore this multicentre study was performed in adolescents over a 3-year period to assess metabolic control, severe hypoglycaemia, and weight gain in relation to insulin injection regimens. Out of 2873 children and adolescents in an international survey in 1995, 872 adolescents (433 boys, 439 girls, mean age in 1995 11.3+/-2.2 years) were restudied in 1998, relating insulin regimens to HbA(1c) measured in a central laboratory. In addition, the daily dose of insulin, changes in body mass index (BMI), and events of severe hypoglycaemia were evaluated. Over 3 years, the use of multiple injection regimens increased from 42% to 71%: 251 patients remained on twice daily insulin, 365 remained on multiple injections and 256 shifted from twice daily insulin to multiple injections. In all three subgroups an increase in insulin dose, a deterioration of metabolic control, and an increase in BMI were observed. Metabolic control deteriorated less than expected over 3 years during adolescence (HbA(1c) 1995: 8.7+/-1.6%; 1998 observed: 8.9+/-1.6%, HbA(1c) expected for 1998: 9.0%). BMI increased more than expected, the increase was greatest in patients switching from twice daily to multiple injections, and higher in females compared to males. CONCLUSION: in this international study, metabolic control was unsatisfactory in many adolescents with type 1 diabetes irrespective of the insulin regimen. No improvement in metabolic control was observed in this cross-sectional survey, over 3 years in any of the subgroups. Even the group switching from twice to multiple injections did not improve blood glucose control and the increase in body mass index was most pronounced in this group. Conclusive evidence, however, should be based on prospectively planned, randomised therapeutic trials in paediatric patients.

Child↗
PubMed2002

Insulin treatment at onset of diabetes. Leicester Royal Infirmary Children's Hospital, Leicester, UK.

Management strategies and practicalities of insulin therapy in the first days and weeks after the diagnosis of diabetes in children and adolescents depend on the clinical situation and the facilities available. Outpatient or domiciliary management favoured by some centres is only practicable and safe if an experienced team is readily available. There is evidence showing a correlation between the level of glycaemic control achieved in the earliest years of treatment and the metabolic control in subsequent years (the 'tracking phenomenon'). The major factors influencing metabolic control in the first year after diagnosis certainly include the continuing secretion of endogenous pancreatic insulin. There has been considerable debate as to whether continuing insulin secretion and the induction of the remission phase can be significantly affected by the methods of insulin administration in the first days after clinical diagnosis; whether intravenous insulin has a protective effect; whether psychosocial factors have a more profound influence on metabolic control; and whether there is enough evidence to make valid recommendations on the optimal method(s) for treating children at the onset of diabetes. It seems likely that from the first day after diagnosis benefit is derived from attempting to obtain near normoglycaemia and the rapid induction of a partial remission phase by whatever insulin regimen is found to be most successful. This may occur not only by reducing the threat of glucotoxicity on the beta-cells but also by setting a pattern of optimal control for the child and the family. This process is enhanced by frequent contact with the team of experts in childhood diabetes who are able to give advice on insulin adjustments from the onset of diabetes.

Diabetes Mellitus↗