Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria

Touati, Guy; Poggi-Travert, F.; Baulny, Hélène Ogier de; Rahier, Jacques; Brunelle, Françis; Nihoul‐Feketé, Claire; Czernichow, P; Saudubray, Jean Marie

doi:10.1007/s004310050900

Cited by 91 publications

(107 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This rate is higher for the patients with neonatal onset compared with a French cohort of patients, where only 16% of neonates responded to diazoxide (9,15,16). Nevertheless, even in diazoxide-responsive patients, further diagnostic procedures to identify a focal lesion have to be considered, since only enucleation of a focal lesion will really cure these patients (17).…”

Section: Discussionmentioning

confidence: 97%

Long-term follow-up of 114 patients with congenital hyperinsulinism

Meißner

Wendel

Burgard

et al. 2003

European Journal of Endocrinology

182

144

View full text Add to dashboard Cite

Background: The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia. Objective: To evaluate the clinical presentation, diagnostic criteria, treatment and long-term follow-up in a large cohort of CHI patients. Patients: The data from 114 patients from different hospitals were obtained by a detailed questionnaire. Patients presented neonatally (65%), during infancy (28%) or during childhood (7%). Results: In 20 of 74 (27%) patients with neonatal onset birth weight was greatly increased (group with standard deviation scores (SDS) .2.0) with a mean SDS of 3.2. Twenty-nine percent of neonatal-onset vs 69% of infancy/childhood-onset patients responded to diazoxide and diet or to a carbohydrate-enriched diet alone. Therefore, we observed a high rate of pancreatic surgery performed in the neonatal-onset group (70%) compared with the infancy/childhood-onset group (28%). Partial (3%), subtotal (37%) or near total (15%) pancreatectomy was performed. After pancreatic surgery there appeared a high risk of persistent hypoglycemia (40%). Immediately post-surgery or with a latency of several years insulin-dependent diabetes mellitus was observed in operated patients (27%).

show abstract

Section: Discussionmentioning

confidence: 97%

Long-term follow-up of 114 patients with congenital hyperinsulinism

Meißner

Wendel

Burgard

et al. 2003

European Journal of Endocrinology

182

144

View full text Add to dashboard Cite

show abstract

“…Tedavide ilk tercih edilen ilaç insülin salınımını engelleyen diazoksittir (17) . Ancak olguların çoğunda KATP kanalları hücre yüzeyinde olmadığı için veya ilaca direnç görüldüğü için yanıt alınamaz (18) .…”

Section: Discussionunclassified

A Neonatal Case of Congenital Hyperinsulinism Due to Homozygous KCNJ11 Gene Mutation

Demirol¹,

Olukman²,

Elmas³

et al. 2017

Terh

View full text Add to dashboard Cite

ÖZKonjenital hiperinsülinizm (KHİ), yenidoğan ve erken infantil dönemde yineleyici veya inatçı ağır hipogliseminin en sık nedenlerinden birisidir. Hastalığın görülme sıklığı toplumlar arasında farklılık göstermekle birlikte, genel populasyondaki sporadik oranlar yaklaşık 40000-50000 canlı doğumda birdir. Araplar, Ashkenazi Yahudileri ve Türkler gibi akraba evliliklerinin yaygın olduğu toplumlarda hastalığın ailesel formlarının görülme oranı 2500 canlı doğumda bire kadar yükselebilir. Etiyolojide sıklıkla pankreatik beta hücrelerinden insülin salınımında rol alan yolaklardaki genetik bozukluklar sorumlu tutulmaktadır. Ancak bugüne dek tanımlanabilen mutasyonların oranı hemen hemen %50 düzeyindedir. KHİ'de en yaygın rastlanan genetik defekt, K+ATP kanallarını oluşturan SUR1 ve Kir. 6,2'yi kodlayan, 11. kromozomda lokalize ABCC8 ve KCNJ11 gen mutasyonlarıdır. Bu makalede homozigot KCNJ11 gen mutasyonuna bağlı KHİ tanısı konulan bir yenidoğan olgusu, hastalığın inatçı ağır neonatal hipogliseminin ayırıcı tanısında önemini vurgulamak ve yüklü aile öyküsü varlığında ileri genetik çalışmaların gerekliliğine dikkat çekmek amacıyla sunulmuş-tur.Anahtar kelimeler: Konjenital hiperinsülinizm, KCNJ11 gen mutasyonu, olgu sunumu ABSTRACT Congenital hyperinsulinism (CHI) is one of the most common causes of recurrent or persistent severe hypoglycemia in the neonatal period and early infancy. Although the incidence may vary widely among different populations, the sporadic rates in the general population is approximately 1/40,000-50,000 live births. The incidence of the familial forms may be as high as 1/2,500 in certain communities like Arabs, Ashkenazi Jews and Turks, in which consanguineous marriages are common. Genetic disorders of the pathways of insulin release from pancreatic beta cells are frequently held responsible for the etiology. However the incidence rate of the identified mutations up to date is nearly 50 percent. The most common genetic defects found in CHI are mutations in the ABCCS and KCNJ11 genes, which are located on chromosome 11p and encode for the SUR1 and Kir 6.2 subunits of the KATP channels. Here we report a newborn infant diagnosed as CHI due to homozygous KCNJ11 gene mutation with the aim of emphasizing the importance of CHI in the differential diagnosis of persistent neonatal hypoglycemia and attracting attention to the necessity of further genetic studies in the presence of strong familial history.

show abstract

“…Although medical therapy in combination with frequent enteral feeding (11) is the first choice for treatment of hyperinsulinemia (12), the response varies widely on clinical subtypes of PHHI, categorized by hyperinsulinemia severity and types of genetic mutations causing hypersecretion of insulin (12,13). The risk of hypoglycemic attacks will also rise by increasing the feeding intervals; and as long as older children eat three separate meals, they will be more predisposed to hypoglycemia between the meals; therefore drug therapy will be less effective in controlling blood sugar with increasing age.…”

Section: Discussionmentioning

confidence: 99%

Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy

Soheilipour

Jamshidi

Ahmadi

et al. 2015

Arch. Endocrinol. Metab.

View full text Add to dashboard Cite

SUMMARYHyperinsulinemia, diagnosed by laboratory tests, should be diagnosed and treated as soon as possible to prevent fatal complications such as neurological damage. Patients who are resistant to medical therapy should be treated surgically. Minimally invasive surgery, a newly developed approach, is a good choice among surgical procedures to avoid unnecessary extensive pancreatectomy. Here, a 12-year-old boy is presented with diagnosis of hyperinsulinemic hypoglycemia who had recurrent attacks of hypoglycemia and seizures from infancy. Because of his unresponsiveness to medical therapy and his family's preference, he underwent laparoscopic pancreatectomy to reduce morbidity and hospital stay. Two years postsurgical follow-up revealed a normo-glycemic state. Arch Endocrinol Metab. 2015;59(5):466-9

show abstract

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria

Cited by 91 publications

References 21 publications

Long-term follow-up of 114 patients with congenital hyperinsulinism

Long-term follow-up of 114 patients with congenital hyperinsulinism

A Neonatal Case of Congenital Hyperinsulinism Due to Homozygous KCNJ11 Gene Mutation

Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy

Contact Info

Product

Resources

About