BackgroundThe factory calibrated FreeStyle Libre (FSL) flash glucose monitoring system has been recently introduced for use in patients with diabetes mellitus. There are no reports available regarding its use in patients with congenital hyperinsulinism (CHI). We have assessed the accuracy of FSL compared to the finger prick capillary blood glucose (CBG) over 2 weeks period in patients with CHI and evaluated the parents’ experience of using FSL.MethodsFour hundred sixty-seven episodes of CBG along with corresponding swipe FSL readings were available from 11 children with CHI (0.5–5 years). A detailed questionnaire was completed by the parents.ResultsThe mean variation between the two methods was 0.29 mmol/l (SD ±1.07), higher readings by FSL compared to CBG. The FSL sensors stayed in-situ for an average period of 11.5 days. There was a positive correlation between the two methods (r = 0.7). The FSL tended to overestimate compared to CBG (bias = 0.29 mmol/l; 95% CI: 0.19 to 0.38). Only 70% of values were within the reference standard (±0.83 mmol/l) at glucose concentrations less than 5.6 mmol/l. The overall Mean Absolute Relative Difference (MARD) was 17.9%. Forty two episodes of hypoglycaemia (CBG < 3.5 mmol/l) were noted but FSL identified only 52% of these episodes. The Bland Altman analysis showed the 95% limits of agreement between the two methods ranging from − 1.8 (95% CI: -1.97 to − 1.64) to 2.37 (95% CI: 2.21 to 2.54). Majority of the parents found the glucose trend on FSL to be useful to detect and prevent hypoglycaemic episodes. All parents felt that FSL is a very easy and convenient method to measure the glucose especially during sleep. A significant proportion of parents felt that FSL readings were not accurate and 56% of parents expressed interest to continue using FSL after the trial period.ConclusionNoticeable variability between the two methods of measuring the glucose was noted. Despite the ease of using the FSL system, concerns related to accuracy, especially at low glucose values do remain although parents find the glucose trend to be very useful. Further larger trials are needed in CHI patients before FSL is recommended as a routine alternative method for measuring glucose levels.
BackgroundThe hyperinsulinism/hyperammonaemia (HI/HA) syndrome is the second most common cause of hyperinsulinaemic hypoglycaemia, caused by activating mutations in GLUD1. In this article, we report a series of three unrelated patients with HI/HA syndrome who demonstrated variable phenotypes, ranging from delayed presentation to spontaneous resolution of hypoglycaemia, thereby expanding the current knowledge and understanding of GLUD1 mutations.Case presentationThis paper is a retrospective analysis of patients with HI/HA syndrome who demonstrated a variable disease course. Patient 1 presented with hypoglycaemic seizures at the age of 7 months and was diagnosed with HI/HA syndrome. Patient 2, a 5-year-old boy, on anti-convulsants since 8 months of age, was diagnosed with HI/HA at the age of 4 years. Patient 3, an 11-year-old girl with a history of transient neonatal hypoglycaemia, was diagnosed with HI/HA at the age of 12 months following evaluation for absence seizures. Patients 1 and 2 had raised ammonia levels, whilst patient 3 had normal ammonia level. The genetic analysis in all three patients confirmed GLUD1 mutation. Good glycaemic control was observed in all following diazoxide treatment. All patients have learning difficulties. Patient 1 demonstrated spontaneous resolution of hypoglycaemia at the age of 8 years, enabling discontinuation of diazoxide.ConclusionsThe cases highlight the diagnostic challenges in HI/HA syndrome due to a highly variable presentation. Knowledge of variable phenotypes would enable early diagnosis, thereby decreasing the risk of long-term neurological damage. Spontaneous resolution of hyperinsulinism could occur, and it is important to consider a trial off diazoxide therapy especially if the patients are on a small dose of diazoxide.
Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent congenital hyperinsulinism (CHI) who developed recurrent hypoglycaemia following fluoxetine therapy. This 15-year-old girl was initially managed with diazoxide therapy. She developed troublesome hypertrichosis, which affected her quality of life adversely. Diazoxide was then slowly weaned and stopped with the introduction of octreotide, to which she responded well. Subcutaneous lanreotide (long-acting somatostatin analogue) was subsequently commenced (30 mg, once monthly) as injecting octreotide multiple times a day was proving to be difficult for the patient. The continuous blood glucose monitoring on monthly lanreotide injections revealed good glycaemic control. Six months later, she developed depression due to psychosocial problems at school. She was started on fluoxetine by the psychiatry team. She subsequently developed recurrent symptomatic hypoglycaemic episodes (blood glucose <3.5 mmol/L) and fluoxetine was discontinued, following which the hypoglycaemic episodes resolved within a week. Fluoxetine has been associated with hypoglycaemia in patients with diabetes mellitus. We report, for the first time, hypoglycaemia secondary to fluoxetine in a patient with CHI.
IntroductionThe insulin tolerance (ITT) and glucagon stimulation (GST) tests are used most frequently to assess growth hormone reserve. These tests also stimulate cortisol release. It is not uncommon for patients, with no clinical suggestion of cortisol deficiency, to have equivocal cortisol responses (peak cortisol <500 nmol/L) which may cause unnecessary parental anxiety, further testing and treatment.AimTo explore the outcome of children with idiopathic short stature and isolated idiopathic short stature who had peak cortisol levels <500 nmol/l in the ITT or GST during the period January 2008 to December 2014.ResultsData from 189 (130 M) patients, age 12.0 years ± 4.4 (mean±SD) were studied. 94 underwent a GST and 95 underwent an ITT.In 38 patients (20.1%), age 12.1yrs (1.7–19.2 yrs), peak cortisol levels were <500 nmol/L, of whom 24 patients, (median age 7.7 yrs, 1.7–16.8 yrs) underwent GST (peak cortisol levels 396 nmol/L, 231–491) and 14 patients (median age 14.0 yrs, 5. 2–19.2 yrs) underwent ITT (peak cortisol 461 nmol/L, 408–497).Outcome of these patients who had peak cortisol <500 nmol/l is given in the following Table.Abstract G462(P) Table 1Number of patients n = 38Test, Peak cortisol – median (range) (nmol/l)Outcome16GST, N=15, 364 (238–464) ITT, N=1, 486Passed LDSST6451 (422–486)All had ITT and were treated with hydrocortisone on sick days only. 3 patients had LDSST of whom 2 had peak cortisol levels <500 nmol/L.13GST, N=7, 414 (345–491) ITT, N=6, 482 (408–497)Observation only, remained clinically well. Median period of observation 2.5yrs (range 0.9–7.8 yrs)1469 on ITTMorning cortisol was 457nmol/l1301 on GSTPassed ITT after GST with peak of 541nmol/l1428 on GSTDid not attend 3 appointmentsLDSST: low dose short Synacthen testConclusionOur observations support previous reports that cortisol levels in healthy children may be <500nmol/L on the GST and ITT, and strengthen recommendations for a review in the definitions of ‘normal’ and ‘abnormal’ results.
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