Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism

Jindal, Radhika; Ahmad, Ayesha; Siddiqui, Mahmudur Rahman; Kochar, Inderpal Singh; Wangnoo, Subhash Kumar

doi:10.1016/j.dsx.2013.02.018

Cited by 2 publications

(3 citation statements)

References 28 publications

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“…12) Unfortunately, in that case, frequent hypoglycemic episodes led to developmental delay. 12) We were able to minimize hypoglycemia in our patient, and at present, the boy shows no signs of neurological damage. However, even after surgery, he requires a higher-than-normal carbohydrate intake and has a fasting tolerance of only 4 hours.…”

Section: Discussionmentioning

confidence: 93%

“…Unfortunately, the effect of pasireotide in our patient with severe CHI was insufficient to avoid definitive pancreatic surgery. In 2014, the same homozygous ABCC8 duplication was described in another severe CHI case as a novel mutation [ 12 ]. Unfortunately, in that case, frequent hypoglycemic episodes led to developmental delay [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…In 2014, the same homozygous ABCC8 duplication was described in another severe CHI case as a novel mutation [ 12 ]. Unfortunately, in that case, frequent hypoglycemic episodes led to developmental delay [ 12 ]. We were able to minimize hypoglycemia in our patient, and at present, the boy shows no signs of neurological damage.…”

Section: Discussionmentioning

confidence: 99%

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Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Mooij

Tacke

Albada

et al. 2021

Ann Pediatr Endocrinol Metab

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ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases. Current treatment protocols include the first-generation somatostatin analogue octreotide, although pasireotide, a second-generation somatostatin analogue, might be more effective in reducing insulin secretion. Herein we report the first off-label use of pasireotide in a boy with a severe therapy-resistant form of CHI due to a homozygous ABCC8 mutation. After partial pancreatectomy, hyperinsulinism persisted; in an attempt to prevent further surgery, off-label treatment with pasireotide was initiated. Short-acting pasireotide treatment caused high blood glucose level shortly after injection. Long-acting pasireotide treatment resulted in more stable glycemic control. No side effects (e.g., central adrenal insufficiency) were noticed during a 2-month treatment period. Because of recurrent hypoglycemia despite a rather high carbohydrate intake, the boy underwent near-total pancreatectomy at the age of 11 months. In conclusion, pasireotide treatment slightly improved glycemic control without side effects in a boy with severe CHI. However, the effect of pasireotide was not sufficient to prevent near-total pancreatectomy in this case of severe CHI.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Mooij

Tacke

Albada

et al. 2021

Ann Pediatr Endocrinol Metab

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Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia

Haris

Saraswathi

Hussain

2020

Therapeutic Advances in Endocrinology

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Hyperinsulinaemic hypoglycaemia (HH) is a biochemical finding of low blood glucose levels due to the dysregulation of insulin secretion from pancreatic β-cells. Under normal physiological conditions, glucose metabolism is coupled to β-cell insulin secretion so that blood glucose levels are maintained within the physiological range of 3.5–5.5 mmol/L. However, in HH this coupling of glucose metabolism to insulin secretion is perturbed so that insulin secretion becomes unregulated. HH typically occurs in the neonatal, infancy and childhood periods and can be due to many different causes. Adults can also present with HH but the causes in adults tend to be different. Somatostatin (SST) is a peptide hormone that is released by the delta cells (δ-cells) in the pancreas. It binds to G protein-coupled SST receptors to regulate a variety of location-specific and selective functions such as hormone inhibition, neurotransmission and cell proliferation. SST plays a potent role in the regulation of both insulin and glucagon secretion in response to changes in glucose levels by negative feedback mechanism. The half-life of SST is only 1–3 min due to quick degradation by peptidases in plasma and tissues. Thus, a direct continuous intravenous or subcutaneous infusion is required to achieve the therapeutic effect. These limitations prompted the discovery of SST analogues such as octreotide and lanreotide, which have longer half-lives and therefore can be administered as injections. SST analogues are used to treat different forms of HH in children and adults and therapeutic effect is achieved by suppressing insulin secretion from pancreatic β-cells by complex mechanisms. These treatments are associated with several side effects, especially in the newborn period, with necrotizing enterocolitis being the most serious side effect and hence SS analogues should be used with extreme caution in this age group.

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Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism

Cited by 2 publications

References 28 publications

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia

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