Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism
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Rana Al-Balwi
Abstract
Background:
Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia and brain damage. Therapeutic strategies to avoid near total pancreatectomy in patients who are unresponsive to maximum doses of diazoxide and octreotide remain to be identified, although sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used successfully to treat diffuse type CHI.
Case presentation:
We used sirolimus to treat three infants with diffuse CHI. Diagnosis was confirmed clinically, biochemically and by genetic testing. Homozygous mutations in KCNJ11, ABCC8 and KCNJ11 were identified in infants 1, 2 and 3, respectively. Each infant had received the therapy for at least 2 months with close monitoring of glycemic response, serum insulin and C-peptide. None of the infants responded to the therapy.
Conclusions:
We conclude that sirolimus is less effective in the treatment of diffuse CHI in patients with severe mutations in the homozygous state compared with those with the mutations in the heterozygous.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
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- Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency
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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Standard body mass index reference data of prepubescent diabetic Egyptian children
- Frequency and risk factors of depression in type 1 diabetes in a developing country
- Association of obesity and health related quality of life in Iranian children and adolescents: the Weight Disorders Survey of the CASPIAN-IV study
- Association between urinary phthalates and metabolic abnormalities in obese Thai children and adolescents
- A pilot study of the effect of human breast milk on urinary metabolome analysis in infants
- Assessment of the correlation between the atherogenic index of plasma and cardiometabolic risk factors in children and adolescents: might it be superior to the TG/HDL-C ratio?
- Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- Application of povidone-iodine at delivery significantly increases maternal urinary iodine but not neonatal thyrotropin in an area with iodine sufficiency
- Influence of topical iodine-containing antiseptics used during delivery on recall rate of congenital hypothyroidism screening program
- Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening
- Short Communication
- Initial patient choice of a growth hormone device improves child and adolescent adherence to and therapeutic effects of growth hormone replacement therapy
- Case Reports
- An occult ectopic parathyroid adenoma in a pediatric patient: a case report and management algorithm
- Fetal goitrous hypothyroidism treated by intra-amniotic levothyroxine administration: case report and review of the literature
- Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene
- Sirolimus in the treatment of three infants with diffuse congenital hyperinsulinism
