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Families living with PHHI support each other through the means of Email.
By becoming a member of either of the following support groups, you will be able to write to the group and receive the postings written by members of the group.
Hyperins on Yahoo groups English. This discussion group was created to encourage an open and easily accessible forum for people, and family members of people, who have been diagnosed with Hyperinsulinism. This list will hopefully provide a forum for open and honest exchange of ideas, histories, and research of Hyperinsulinism. The hope is that this list will also act as a support network for those affected by Hyperinsulinism.
Hiper on Yahoo groups Español. Este grupo esta formado para la ayuda mutua entre padres con hijos diagnosticados hiperinsulinismo. En esta lista usted podrá promover discusiones cambiar idea, historias todo lo relacionado con la vida cotidiana con un miembro de la familia viviendo con esta enfermedad. Deseo que esto nos ayude un poco a todos y que nos haga mas llevadero.
Hyperinsulinismus Deutsch. Hier soll nun auf Deutsch eine Hilfestellung fuer Kinder und Erwachsene mit Hyperinsulinismus beginnen. Es gibt diese Group bereits auf Englisch und Spanisch. Da viele weder Englisch noch Spanisch koennen, soll dies eine Ergaenzung sein.

There is a UK HI Support Group, which has regular newsletters and meetings. If you live in the UK and would like to join, you can contact Julia Killengray.

Children and teenagers support group : This is a group for children and teenagers with Hyperinsulinism. It is meant for kids who want to ask other kids questions or about experiences that they may face. Please be aware that this group is run by teenagers, not by parents or medical professionals. Basically, this is a support group as well as a place where questions can be answered.
You can also contact any of the following members:

Isabel living in Canada speaks Français, English and Español
living in USA speaks Arabic and English
and Marian living in Spain speak Español and some English
living in Ireland speaks English
living in England speaks English
living in USA speaks English
Robyn living in Australia speaks English
Irene living in Austria speaks English, Greek and German

Eve is a young adult speaking English and offering special support to teenagers and young adults

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Title: Nesidioblastosis
Authors: Robert S Gillespie, MD & Stephen Ponder, MD, CDE
Comment: A very good medical overview of the disease including a good description of treatment and medication.
Title: Practical management of hyperinsulinism in infancy (pdf)
Authors: A Aynsley-Green, K Hussain, J Hall, J M Saudubray, C Nihoul-Fékété, P De Lonlay-Debeney, F Brunelle, T Otonkoski, P Thornton, K J Lindley
Abstract: Hyperinsulinism in infancy is one of the most difficult problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without difficulty, it presents the paediatrician with formidable day to day management problems. Despite recent advances in understanding the pathophysiology of hyperinsulinism, the neurological outcome remains poor, and there is often a choice of unsatisfactory treatments, with life long sequelae for the child and his or her family. This paper presents a state of the art overview on management derived from a consensus workshop held by the European network for research into hyperinsulinism (ENRHI). The consensus is presented as an educational aid for paediatricians and children's nurses. ...
Title: Hyperinsulinism and Hyperammonemia in infants (pdf)
Authors: Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M.
Introduction: A new form of congenital hyperinsulinism characterized by hypoglycemia and hyperammonemia was described recently. We hypothesized that this syndrome of hyperinsulinism and hyperammonemia was caused by excessive activity of glutamate dehydrogenase, which oxidizes glutamate to alpha-ketoglutarate and which is a potential regulator of insulin secretion in pancreatic beta cells and of ureagenesis in the liver. …
Title: Genetics of neonatal hyperinsulinism (pdf)
Authors: Benjamin Glaser, Paul Thornton, Timo Otonkoski, Claudine Junien
Abstract: Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The clinical heterogeneity is manifested by severity ranging from extremely severe, life threatening disease to very mild clinical symptoms, which may even be difficult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely variable. Recent discoveries have begun to clarify the molecular aetiology of this disease and thus the mechanisms responsible for this clinical heterogeneity are becoming more clear. Mutations in 4 different genes have been identified in patients with this clinical syndrome. Most cases are caused by mutations in either of the 2 subunits of the cell ATP sensitive K+ channel (KATP), whereas others are caused by mutations in the cell enzymes glucokinase and glutamate dehydrogenase. However, for as many as 50% of the cases, no genetic aetiology has yet been determined. The study of the genetics of this disease has provided important new information about cell physiology. Although the clinical ramifications of these findings are still limited, in some situations genetic studies might greatly aid in patient management.
(Arch Dis Child Fetal Neonatal Ed 2000;82: F79-F86)
Title: Hyperinsulinism of infancy: towards an understanding of unregulated insulin release (pdf)
Authors: Ruth M Shepherd, Karen E Cosgrove, Rachel E O'Brien, Philippa D Barnes, Carina Ämmälä, Mark J Dunne
Abstract: Insulin is synthesised, stored, and secreted from pancreatic cells. These are located within the islets of Langerhans, which are distributed throughout the pancreas. Less than 2% of the total pancreas is devoted to an endocrine function. When the mechanisms that control insulin release are compromised, potentially lethal diseases such as diabetes and neonatal hypoglycaemia are manifest. This article reviews the physiology of insulin release and illustrates how defects in these processes will result in the pathophysiology of hyperinsulinism of infancy.
(Arch Dis Child Fetal Neonatal Ed 2000;82: F87-F97)
Title: Hyperinsulinemia (pdf)
Authors: Kenneth Kwok-Chun Chan, MD, Ab Sadeghi-Nejad, MD
Introduction: Primary hyperinsulinism is a rare but important cause of hypoglycemia in infants and children. It is the most common cause of neonatal hypoglycemia following the first few hours of life. The clinical presentation varies with the age of the child. Early diagnosis and treatment are essential to prevent seizures and neurologic sequelae. Persistent hypoglycemia and inappropriately high concentrations of insulin are diagnostic findings. The concentrations of free fatty acids and ketones (ie, beta-hydroxybutyrate, acetoacetate) are low. Several genetic causes of persistent hyperinsulinism recently have been identified. …
Title: Pediatrics, Hypoglycemia
Authors: Hilarie Cranmer, Michael Shannon
Introduction: In children and neonates, a blood glucose value below 40 mg/dL represents hypoglycemia. Patients with hypoglycemia may be asymptomatic or may present with severe central nervous system (CNS) and cardiopulmonary disturbances. Any acutely ill child should be evaluated for hypoglycemia, especially when history reveals diminished oral intake.
Title: Neonatal Glucose Monitoring
Introduction: These guidelines have been developed to assist physicians and nurses in the monitoring and management of the infant with hypoglycaemia. Individual circumstances will dictate the most appropriate treatment. Symptomatic hypoglycaemia must be treated as an emergency. Asymptomatic hypoglycaemia requires urgent correction with IV 10% Dextrose being the most rapid method. Oral feeding is an alternative for some infants.
Title: Hypoglycemia
Authors: Frank Smeeks, Leslie R Wolf
Introduction: Hypoglycemia is considered present when serum glucose is less than 50 mg/dL. An alternative definition is a decrease in the blood glucose level or its tissue utilization that results in demonstrable signs or symptoms. These signs or symptoms usually include altered mental status and/or sympathetic nervous system stimulation. The glucose level at which an individual becomes symptomatic is highly variable. …
Title: Hypoglycaemia of the Newborn, Review of the Literature
Author: World Health Organization
Background: The term "hypoglycaemia" refers to a reduction in the glucose concentration of circulating blood. It is almost a century since it was first described in children and over fifty years since it was recognised in newborn and older infants (Hartmann & Jaudon, 1937). Given the numerous advances which have since occurred in the care of newborn infants it is surprising that so much controversy still surrounds the definition, significance and management of neonatal hypoglycaemia. Paradoxically, technological developments in the form of bedside glucose monitoring have exacerbated rather than eased the problem by facilitating screening for an ill-characterised clinical entity. …
Title: Update-Neonatal Hypoglycemia (pdf)
Author: David Wilson
Introduction: The definition of neonatal hypoglycemia has varied over the past few decades and has generated considerable controversy . At the same time there has been the recognition that hypoglycemia may cause serious neurologic damage in infants.The subtle signs and symptoms of neonatal hypoglycemia and the variation of the presentation from one infant to another only serve to further complicate this issue. Common symptoms of neonatal hypoglycemia include lethargy, listlessness, poor feeding, thermoregulatory problems, apnea, cyanosis, jitteriness, tremors, seizure activity and respiratory distress. …
Title: Subtotal Pancreatectomy Remains Treatment Of Choice For Congenital Hyperinsulinism
Introduction: A DGReview of :"Subtotal pancreatectomy for hypoglycemia due to congenital hyperinsulinism: long-term follow-up of neurodevelopmental and pancreatic function"
Introduction: Pancreatectomy remains the treatment of choice for congenital hyperinsulinism when drugs fail, despite associated cognitive and endocrinological abnormalities. ...

Title: Hyperinsulinaemic hypoglycaemia in preterm neonates (pdf)
Author: K Hussain and A Aynsley-Green
Abstract : Hyperinsulinism in infancy (HI) is an important cause of severe and recurrent hypoglycaemia in newborn infants. It usually appears in infants born at term, and only one case of its occurrence in a prematurely born infant has been reported as an incidental finding. This is a report of seven infants born at 31–36 weeks gestation who experienced severe persistent hyperinsulinism. Two infants were large for dates. All infants were difficult to manage, suggesting that the occurrence of HI with prematurity may be associated with a particularly aggressive illness. HI should be considered in the differential diagnosis of severe hypoglycaemia in preterm infants.
Title : Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: high incidence of diabetes mellitus and persistent beta-cell dysfunction at long-term follow-up (pdf)
Author: Leibowitz G, Glaser B, Higazi AA, Salameh M, Cerasi E, Landau H.
Department of Endocrinology, Hebrew University Hadassah Medical Center, Jerusalem, Israel.
Abstract: In persistent hyperinsulinemic hypoglycemia of infancy (PHHI), the long term outcome of the disease is not well documented. Previous reports suggested that partial pancreatectomy in infants does not endanger future islet function. We evaluated endocrine pancreatic function in 14 PHHI patients 6.5-21 yr after diagnosis. Eight underwent early subtotal pancreatectomy, and 6 were medically treated; all were in clinical remission. … These results show that children with PHHI have impaired insulin responses to glucose and lack of suppressibility of endogenous insulin secretion several years after clinical remission. Thus, the beta-cell defect responsible for the disease in infancy is not corrected with time despite the disappearance of spontaneous hypoglycemia. Insulin secretion seems more disturbed in pancreatectomized patients; the majority develop insulin-requiring diabetes during puberty. An effort should be made to treat PHHI patients medically to avoid pancreatectomy; this may reduce the incidence of diabetes at puberty. J Pediatr Surg. 2003 Jan;38(1):13-6; discussion 13-6.

Title: Surgical complications of pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy.
Author : McAndrew HF, Smith V, Spitz L.
Department of Surgery, Great Ormond Street Hospital for Children, London, England. PMID: 12592610 [PubMed - indexed for MEDLINE]
Purpose: The aim of this study was to review the surgical complications of pancreatectomy for persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). Methods: A retrospective review was conducted of patients undergoing pancreatectomy for PHHI in one institution over the past 13 years. Results: The records of 48 patients were reviewed; the age at operation ranged from 10 days to 30 months (median, 8 weeks). Weight at operation ranged from 1.97 to 11.4 kg (median, 5.2 kg). There were no deaths. Intraoperative complications comprised bleeding in 7, (major in 2), splenic injury in one, bile duct injury in 2 (1 oversewn, 1 choledochoduodenostomy), and 1 small bowel injury. Postoperatively, 5 children underwent choledochoduodenostomy: 2 for biliary leak and 3 for delayed bile duct stricture. Other postoperative complications included wound infection (n = 3), prolonged ileus (n = 1) and adhesion obstruction (n = 1), and wound leakage (n = 1). Renal failure developed in one child owing to acute tubular necrosis. Nine patients required further pancreatic resection because of continued hypoglycaemia. Three patients continued to require medication for hyperinsulinism despite surgery, 20 required insulin, and 13 required pancreatic enzyme replacement at the time of the last review. Conclusions: Pancreatectomy resulted in resolution of hyperinsulinism in 45 of 48 patients. Sixteen patients required no further surgery or medication. Pancreatectomy for PHHI may be associated with major intra and postoperative morbidity.

Titre: Prolonged hyperinsulinemic hypoglycemia in a small for date preterm.
Author: Pezzati M, Barni S, Chiti G, Danesi G, Rubaltelli FF.
Abstract: Hyperinsulinism is an important cause of hypoglycemia in early infancy. Many forms of hyperinsulinemic hypoglycemia are described: transient, prolonged, persistent. Transient forms are well recognized in infants of diabetic mother; prolonged forms are responsible for the hypoglycemia in small-for-date (SGA) infants and asphyxiated newborns. Persistent hyperinsulinemic hypoglycemia occurs in a group of congenital disorders associated with an abnormality of beta-cell regulation throughout the pancreas. Accurate diagnosis and treatment are essential in all various forms of hyperinsulinism also because newborns are at high risk of permanent brain damage. We report a case of prolonged hyperinsulinemic hypoglycemia in a SGA preterm, immediately treated with a high dose of glucose and glucocorticoid and then with diazoxide. Hypoglycemia was continued until 2 months of age when it resolved spontaneously and completely.

Title: Persistent Hyperinsulinaemic Hypoglycaemia of Infancy in 43 Children: Long-term Clinical and Surgical Follow-up
Authors: Saleh Al-Nassar, Nadia Sakati, Abdullah Al-Ashwal and Bassam Bin-Abbas
Objective: To describe the clinical, surgical, biochemical, radiological and electrophysiological features of 43 Saudi children with persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) who have been followed since 1983.

Title: Hyperinsulinaemic hypoglycaemia: biochemical basis and the importance of maintaining normoglycaemia during management
Auteur : Khalid Hussain, Oliver Blankenstein, Pascale De Lonlay, Henrik T Christesen

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Children's Hospital of Philadelphia (CHOP) Congenital Hyperinsulinism Center. "THE" reference on the web for PHHI. Explanations about different types of hyperinsulinaemia, the genetics of PHHI, symptoms, diagnosis and treatment; you can even send your questions to a specialists.

The Great Ormond Street Hospital for Children is the reference for PHHI in England. Do a search with the letters PHHI and you will find links to articles and more.

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PHHI Organizations

The Children's Hyperinsulinism Fund is a Fund within the Special Trustees Charity of Great Ormond Street Hospital for Children. The Fund's aim is to raise funds for research into Congenital Hyperinsulinism (CHI), also known as Persistent Hyperinsulinaemic Hypoglycaemia of Infancy (PHHI) and formerly known as Nesidioblastosis. The Children's Hyperinsulinism Fund helps children in the UK and around the world who suffer from Congenital Hyperinsulinism. We are striving to find lifelong answers to the problems that these children face daily.

Congenital Hyperinsulinism International was created in may 2005. The purposes of the corporation are, amongst others, to advocate on behalf of children and adults with congenital hyperinsulinism, to create and provide educational resources about congenital hyperinsulinism, to support research and development to better understand and treat congenital hyperinsulinism, to support children, adults, and their families living with congenital hyperinsulinism and to increase awareness of congenital hyperinsulinism, especially among medical personnel, in order to improve timely diagnosis. For more information contact us.

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Other links

Children with Diabetes. Although this site is intended for people with diabetes, we can still find a good source of information on products (glucometers, insulin pumps - also used for octreotide), treating an episode of hypoglycemia, nutrition and explanations about different tests (HbA1c). As you surf through the site, just keep in mind that what is good for a diabetic is not necessarily good for treating PHHI.
Biomedical Science. On this site you will find a very complete description of the pancreas anatomy and function.
Different sites providing medical article banks :

Archives of Diseases in Childhood
Journal of Clinical Endocrinology & Metabolism
Journal of Paediatrics

AllExperts. A question and answer service where you can ask your questions to health experts. Our members have found it useful. Questions are answered fast.
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