Long-Term Follow-Up of Children With Congenital Hyperinsulinism on Octreotide Therapy

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%). General outcome was poor with a high degree of psychomotor or mental retardation (44%) or epilepsy (25%). An unfavorable outcome correlated with infancy-onset manifestation (chi(2)=6.1, P=0.01). CONCLUSIONS: The high degree of developmental delay, in particular in infancy-onset patients emphasizes the need for a change in treatment strategies to improve the unfavorable outcome. Evaluation of treatment alternatives should take the high risk of developing diabetes mellitus into account.

Download Full-text

Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2016-0103 ◽

2016 ◽

Vol 29 (10) ◽

Author(s):

Katharina Warncke ◽

Franziska Falco ◽

Wolfgang Rabl ◽

Ilse Engelsberger ◽

Julia Saier ◽

...

Keyword(s):

Genetic Testing ◽

Medical Therapy ◽

Congenital Hyperinsulinism ◽

Early Puberty ◽

Genetic Characteristics ◽

Subtotal Pancreatectomy ◽

Laboratory Results ◽

Long Term Follow Up

AbstractBackground:Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children’s Hospital Schwabing.Methods:We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit.Results:All patients had severe, diazoxide-(DZX)-resistant hypoglycemia, beginning immediately after birth. Two patients were treated by medical therapy, eight underwent subtotal pancreatectomy and one had a partial resection. Both patients who had medical therapy still suffer from occasional hypoglycemia. Six patients with subtotal pancreatectomy were affected by mild hypoglycemia. Seventy-five percent of patients who had surgical treatment developed diabetes mellitus (DM) at a median age of 10.5 (8–13) years. In 89% of patients with available genetic testing, mutations of theConclusions:The majority of CHI-patients not responding to DZX underwent surgery. After subtotal pancreatectomy, patients typically developed diabetes around early puberty.

Download Full-text

Long-term Follow-up of Patients with Congenital Hyperinsulinism in Austria

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2008-210606 ◽

2008 ◽

Vol 21 (6) ◽

pp. 523-532

Author(s):

Birgit Rami ◽

Saadet Mercimek-Mahmutoglu ◽

Martha Feucht ◽

Marion Herle ◽

Olaf Rittinger ◽

...

Keyword(s):

Mental Retardation ◽

Pancreatic Insufficiency ◽

Congenital Hyperinsulinism ◽

Term Outcome ◽

Long Term Outcome ◽

Follow Up Study ◽

Long Term Follow Up ◽

Prevalence Of Obesity

Abstract Aim: To assess the neurological and clinical long-term outcome of patients diagnosed with congenital hyperinsulinism (CHI) in Austria. Patients and Methods: Fourteen patients diagnosed with CHI (1978-2000) were investigated retrospectively by reviewing hospital records. Thirteen of them were evaluated with either a questionnaire or clinical, neurological and biochemical investigations (age at evaluation 4.2- 25.5 years) in a follow-up study in the year 2004. Results: Fifty percent of the patients needed a pancreatectomy. The prevalence of mental retardation was 31%, of epilepsy 15% and of pancreatic insufficiency 14%. None of our patients had developed diabetes mellitus. Additionally the prevalence of obesity was 43% in patients after pancreatectomy. Sixty-nine percent of the patients had no further treatment at the time of follow-up. Conclusion: Despite early diagnosis and intensive treatment, 31% of the patients presented with mental retardation.

Download Full-text

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.2408 ◽

2016 ◽

Vol 8 (2) ◽

pp. 197-204 ◽

Cited By ~ 1

Author(s):

Ayla Güven ◽

Ayşe Nurcan Cebeci ◽

Sian Ellard ◽

Sarah E. Flanagan

Keyword(s):

Congenital Hyperinsulinism ◽

Genetic Characteristics ◽

Long Term Follow Up ◽

Turkish Patients

Download Full-text

Subtotal pancreatectomy for hypoglycemia due to congenital hyperinsulinism: long-term follow-up of neurodevelopmental and pancreatic function

Pediatric Diabetes ◽

10.1034/j.1399-5448.2001.002003115.x ◽

2001 ◽

Vol 2 (3) ◽

pp. 115-122 ◽

Cited By ~ 9

Author(s):

Kristina I Rother ◽

Jane MS Matsumoto ◽

Norman H Rasmussen ◽

W Frederick Schwenk

Keyword(s):

Pancreatic Function ◽

Congenital Hyperinsulinism ◽

Subtotal Pancreatectomy ◽

Long Term Follow Up

Download Full-text

Long-Term Follow-Up and Mutation Analysis of 27 Chinese Cases of Congenital Hyperinsulinism

Hormone Research in Paediatrics ◽

10.1159/000356911 ◽

2014 ◽

Vol 81 (3) ◽

pp. 169-176 ◽

Cited By ~ 7

Author(s):

Chang Su ◽

Chunxiu Gong ◽

Paul Sanger ◽

Wenjing Li ◽

Di Wu ◽

...

Keyword(s):

Mutation Analysis ◽

Congenital Hyperinsulinism ◽

Long Term Follow Up

Download Full-text

Therapy and prevention for mental health: What if mental diseases are mostly not brain disorders?

Behavioral and Brain Sciences ◽

10.1017/s0140525x1800105x ◽

2019 ◽

Vol 42 ◽

Cited By ~ 2

Author(s):

John P. A. Ioannidis

Keyword(s):

Mental Health ◽

Mental Disease ◽

Brain Disorders ◽

Social Stressors ◽

Labor Education ◽

Mental Diseases ◽

Long Term Follow Up ◽

Political Decisions

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

Download Full-text