However, 1% of these infants have sustained or repeated episodes of hypoglycemia and call for prompt recognition and management. Persistent hyperinsulinemic hypoglycemia of infancy phhi is considered the most common cause of persistent neonatal hypoglycemia. Congenital hyperinsulinism genetic and rare diseases. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most important cause of. Read preoperative use of octreotide in a newborn with persistent hyperinsulinemic hypoglycemia of infancy, journal of pediatric endocrinology and metabolism on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Laidlaw 1 in 1938 coined the term nesidioblastosis based on his understanding of a diffuse ductoendocrine. Hyperinsulinemic hypoglycemia in infancy indian pediatrics. It was first identified in 1938, when laidlaw coined the term nesidioblastosis to describe the neodifferentiation of islets of langerhans from pan. In infants and children, as in adults, the most common cause of persistent hypoglycemia is hyperinsulinism. Persistent hyperinsulinemic hypoglycemia springerlink. Hyperinsulinemic hypoglycemia is the major cause of persistent and recurrent hypoglycemia in neonates and infants.
Early brain atrophy in persistent hyperinsulinemic hypoglycemia of infancy. Minimally invasive surgical interventions in the treatment of. Current pharmacologic treatment of neonatal hh includes diazoxide and octreotide, whereas for diffuse, unresponsive cases a subtotal pancreatectomy may be the last resort, with questionable efficacy. Although rare, this disorder is the most common cause of persistent hyperinsulinemia in children. Phhi is defined as persistent hyperinsulinemic hypoglycemia of infancy somewhat frequently. Congenital isolated hyperinsulinism chi, a rare endocrine disease is the most frequent cause of severe and persistent. Hyperinsulinemic hypoglycemia hh is one of the most common causes of persistent hypoglycemic episodes in neonates. Functional analyses of novel mutations in the sulfonylurea. Phhi persistent hyperinsulinemic hypoglycemia of infancy. The atpsensitive potassium channel, katp channel, a functional complex of the sulfonylurea receptor 1, sur1, and an inward rectifier potassium channel subunit, kir6. Clinically, it is manifested by marked hyperinsulinemia and severe hypoglycemia with its associated systemic complications and notably, by the absence of ketosis. It is due to unregulated secretion of insulin, and it can be transient or permanent. We report a 30 day old infant with phhi whom we successfully treated with oral nifedipine alone. Preoperative use of octreotide in a newborn with persistent.
Congenital hyperinsulinism is caused by mutations in genes that regulate the release secretion of insulin, which is produced by beta cells in the pancreas. Pdf early brain atrophy in persistent hyperinsulinemic. Although an excellent argument for the designation phhi has been made, the term nesidioblastosis is more commonly used. What does persistent hyperinsulinemia hypoglycemia of infancy. It is also referred to as congenital hyperinsulinism chi, familial hyperinsulinemic hypoglycemia, and primary islet cell hypertrophy nesidioblastosis. The focal form of persistent hyperinsulinemic hypoglycemia. Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancreas that helps control blood sugar levels. Research of persistent hyperinsulinemia hypoglycemia of infancy has been linked to hyperinsulinism, hypoglycemia, diabetes mellitus, hypoglycemia of infancy, nesidioblastosis. Congenital hyperinsulinism genetics home reference nih. People with this condition have frequent episodes of low blood sugar hypoglycemia. Phhi stands for persistent hyperinsulinemic hypoglycemia of infancy. The syndrome of persistent hyperinsulinemic hypoglycemia of infancy phhi was first proposed by laidlaw in 1938, and it was referred to the condition of severe hypoglycemia in infants caused by dysregulated insulin secretion 2,3. Here we report a case of congenital diffuse neonatal hh, first suspected when. Persistent hyperinsulinemic hypogylcemia in infants.
Somatic deletion of the imprinted 11p15 region in sporadic. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most important cause of hypoglycemia in early infancy. Persistent hyperinsulinemic hypoglycemia of infancy phhi online mendelian inheritance in man omim 256450, formerly known as nesidioblastosis, is a glucose metabolism disorder characterized by profound hypoglycemia and inappropriate secretion of insulin 1. The disorder is characterized by inappropriate insulin secretion in the face of hypoglycemia, and is diagnosed by demonstrating hypoketotic hypofatty acidemic hypoglycemia in association with hyperinsulinism and an elevated glucose requirement.
Therefore, its common for this condition to be linked to type 2. However, unlike adults, hyperinsulinism in children most often represents a congenital disorder rather than an acquired islet adenoma. We aimed to understand the actual nature of fophhi in comparison with insulinoma. Hyperinsulinism of infancy hi, also known as persistent hyperinsulinemic hypoglycemia of infancy, is a rare genetic disorder that occurs in approximately 1 of 50,000 live births. Arrange for family and patient education to begin immediately. Hypoglycemia due to hyperinsulinemia is the most common cause of persistent hypoglycemia in infants and children. Our understanding of the disorders responsible for this type of hypoglycemia has been increasing due to the recent discoveries in the molecular and biochemical regulation of insulin secretion. Persistent hyperinsulinemic hypoglycemia of infancy phhi, also referred to as congenital hyperinsulinism, familial hyperinsulinemic hypoglycemia, and primary islet cell hypertrophy nesidioblastosis, is the most common cause of persistent hypoglycemia in neonates and infants. Hypoglycemia due to excess insulin is the most common type of serious hypoglycemia. Dec 16, 2015 admit patients with congenital hyperinsulinism chi, or persistent hyperinsulinemic hypoglycemia of infancy phhi, to an intensive care unit icu or a neonatal icu nicu until blood glucose levels are stabilized.
Diabetes in a nonpancreatectomized child with nesidioblastosis. Pdf persistent hyperinsulinemic hypoglycemia of infancy is rare genetic disorder, occurs due to unregulated insulin secretion instead of. It is a disorder of glucose homeostasis characterized by. Hyperinsulinemic hypoglycemia can be transient, prolonged or persistent congenital. Diagnostic features of persistent hyperinsulinemia of infancy persistent hyperinsulinemia of infancy originally was defined as the pathologic entity nesidioblastosis, which denoted nests of islets in close proximity to pancreatic ductules and presumed an abnormality of neoislet formation as the etiology of the excessive insulin secretion. Numerical definitions for hypoglycemia still remain controversial depending on contextoperational threshold is defined as the concentration of plasma or whole blood glucose at which clinicians should consider intervention. Meaning of persistent hyperinsulinemia hypoglycemia of infancy. Mutations in genes encoding the atpregulated potassium katp channels of the pancreatic betacell sur1 and kir6. Congenital hyperinsulinism chi is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. Any infant with persistent or recurrent hypoglycemia should be screened for hyperinsulinism. Laparoscopic pancreatectomy for persistent hyperinsulinemic hypoglycemia of infancy. Information and translations of persistent hyperinsulinemia hypoglycemia of infancy in the most comprehensive dictionary definitions resource on the web.
In five cases a multifocal ductuloinsular proliferation, in one a focal adenomatosis, and in one a solitary encapsulated nodule adenoma were observed. Familial persistent hyperinsulinemic hypoglycemia of infancy phhi, an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p1415. Phhi was diagnosed on the basis of having highinsulin levels and lowglucose levels and a high insulintoglucose ratio. Neonatal insulin secretion and persistent hyperinsulinemia of. Mutations in the sulfonylurea receptor gene in familial. Recent studies have demonstrated a role for calcium channel blocking agents in the treatment of persistent hyperinsulinemic hypoglycemia of infancy. Persistent hyperinsulinemic hypoglycemia of infancy request pdf. Pediatric intensive care, institute of child health and hospital for children, chennai. Seven surgical specimens of pancreas, obtained at laparotomy from infants suffering from persistent hyperinsulinemic hypoglycemia, were analyzed by qualitative and quantitative immunocytochemistry and by electron microscopy.
Congenital forms of hyperinsulinemic hypoglycemia can be transient or persistent, mild or severe. Hyperinsulinemic hypoglycemia is defined as inappropriately elevated plasma insulin concentration in the presence of hypoglycemia of more than 8mgkg. Insulin clears excess sugar in the form of glucose from the bloodstream by passing glucose into cells to be used as energy. Treatment and complications of persistent hyperinsulinemic.
Varadarajan poovazhagi, ananthanarayanan k, mirna k, jahnavi suresh, radha venkatesan, v mohan. Recognition of this entity becomes important due to the fact that the hypoglycemia is so severe and frequent. Persistent hyperinsulinemic hypoglycemia of infancy congenital hyperinsulinism hi is a rare derangement of glucose metabolism, which carries an estimated incidence of 1 to 1. Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy pphi, is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Knowledge of blood glucose homeostasis and appropriate investigations. Lactate, pyruvate, ammonia, and urinary organic acid levels were recorded and tandem mass spectrometry screening was performed. Hyperinsulinism is the most common cause of persistent or re current hypoglycemia in infancy persistent hyperinsulinemic hypoglycemia of infancy phhi1 1. Ersistent hyperinsulinemic hypo tent hypoglycemia l mcquarne in 1950s glycemia of infancy phhi, is a com described it as a syndrome of persistent plex disorder often posing diagnostic prob hypoglycemia of unknown cause of healthy lems and requiring aggressive therapeutic infants resulting in brain damage due to. Persistent hyperinsulinemic hypoglycemia of infancy, or phhi, is the most common cause of severe neonatal hypoglycemia that lasts beyond the first a few hours of life.
Persistent hyperinsulinemic hypoglycemia of infancy phhi has an incidence of 150,000 live births and is considered the most common cause of severe hypoglycemia in infants. Neartotal pancreatectomy for persistent hyperinsulinemic hypoglycemia phh of infancy has been done, so far, only by open surgery, and the application of laparoscopic techniques for this. The study of persistent hyperinsulinemia hypoglycemia of infancy has been mentioned in research publications which can be found using our bioinformatics tool below. The focal form of persistent hyperinsulinemic hypoglycemia of infancy christine sempoux, yves guiot, and jacques rahier p ersistent hyperinsulinemic hypoglycemia of infancy phhi is a disorder characterized by unregulated insulin release, leading to profound hypoglycemia with a major risk of brain damage if not recognized early. However, they can both be caused by insulin resistance. Recent advances in hyperinsulinemic hypoglycemia of infancy. Patients of phhi usually presented with poor feeding, lethargy and irritability, or more severe symptoms such as apnoea, seizures or even coma 47. Persistent hyperinsulinemic hypoglycemia of infancy phhi represents the most common cause of hyperinsulinism in neonates. The inappropriate oversecretion of insulin is responsible for profound hypoglycemias, which require aggressive treatment to prevent severe and irreversible brain damage. Hi has subsequently been referred to by many names, including leucinesensitive hypoglycemia, islet dysregulation syndrome, persistent hyperinsulinemic hypoglycemia of infancy, and nesidioblastosis.
Clinical profile and outcome of persistent hyperinsulinemic. Persistent hyperinsulinemic hypogylcemia in infants medscape. Recent discoveries in the molecular and biochemical regulation of insulin secretion h. How is persistent hyperinsulinemic hypoglycemia of infancy abbreviated. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of recurrent hypoglycemia in neonates and infants. Definition of persistent hyperinsulinemia hypoglycemia of infancy in the dictionary. Clinical profile and outcome of persistent hyperinsulinemic hypoglycemia of infancy.
Persistent hyperinsulinemic hypoglycemia of infancy orphanet. Pdf persistent hyperinsulinemic hypoglycemia of infancy. Pdf persistent hyperinsulinemic hypoglycemia of infancy phhi is relatively rare but one of the most important causes of severe neonatal. Hyperinsulinemic hypoglycemia an overview sciencedirect. Persistent hyperinsulinaemic hypoglycaemia in infancy. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of severe, prolonged neonatal hypoglycemia, occurring in 1 in 50,000 births. Hypoglycemia occurs when plasma glucose levels decrease leading to signs and symptoms of impaired brain function. The syndrome of persistent hyperinsulinemic hypoglycemia of infancy phhi was first proposed by laidlaw in 1938 1, and it was referred to the condition of severe hypoglycemia in infants caused by dysregulated insulin secretion 2,3.
Dec 16, 2015 persistent hyperinsulinemic hypoglycemia of infancy phhi represents the most common cause of hyperinsulinism in neonates. Congenital hyperinsulinism is a condition that causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels. Pdf persistent hyperinsulinemic hypoglycemia of infancycase. Persistent hyperinsulinemic hypoglycemia of infancy phhi, though rare, is the most common cause of neonatal hypoglycemia persisting beyond the first few hours of life.
Minimally invasive surgical interventions in the treatment. Therapy for persistent hyperinsulinemic hypoglycemia of. Prompt recognition and correction of hypoglycemia are necessary to prevent permanent damage to the developing brain 1. An infant with persistent hyperinsulinemic hypoglycemia received diazoxide and developed pulmonary hypertension, heart failure, and neutropenia 119 a a girl with macrosomia, who was delivered by cesarean section at 34 weeks, developed seizures and hypoglycemia in the first days of life due to hyperinsulinemia and was given octreotide and diazoxide. Hyperinsulinemia isnt considered diabetes if its the only symptom. Congenital hyperinsulinism hi is a rare derangement of glucose metabolism, which carries an estimated. Hi was first described in 1954 by macquarrie as idiopathic hypoglycemia of infancy. Persistent hyperinsulinemia of infancy has been known as nesidioblastosis, persistent hyperinsulinemic hypoglycemia of infancy, and familial hyperinsulinism since its initial recognition as a clinical entity in the 1950s. These conditions are present at birth and most become apparent in early infancy. Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Persistent hyperinsulinemic hypoglycemia of infancy phhi 1 mim. We collected all cases of phhi diagnosed in finland between 1983 and 1997 n 24. Request pdf persistent hyperinsulinemic hypoglycemia of infancy congenital hyperinsulinism chi is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. However, persistent and recurrent hypoglycemia in neonates is usually caused by endocrine or.
Apr 07, 2020 although fasting is a useful diagnostic procedure, it must be done with caution. Neonatal insulin secretion and persistent hyperinsulinemia. From omim familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy pphi, is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Adhisivam department of pediatrics, jawaharlal institute of postgraduate medical education and research, pudhucherry, india abstract hyperinsulinemic hypoglycemia. Hypoglycemia is the most common metabolic alteration in neonatal period. Advances in diagnosis and treatment of hyperinsulinism in. Children who have prolonged or recurrent hyperinsulinemic hypoglycemia in infancy can suffer harm to their brains and may be developmentally delayed. Apr 18, 2020 persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of recurrent hypoglycemia in neonates and infants.
Hypoglycemia due to endogenous insulin can be congenital or acquired, apparent in the newborn period, or many years later. Management of phhi involves use of medical agents and its. Define persistent infant hyperinsulinemic hypoglycemia. We report a case of chi with diffuse pancreatic abnormality diagnosed.
Persistent hyperinsulinemic hypoglycemia of infancy phhi, also known as familial hyperinsulinism and nesidioblastosis, is a disorder of glucose homeostasis characterized by unregulated hyperinsulinemia and profound hypoglycemia. Hyperinsulinemic hypoglycemia describes the condition and effects of low blood glucose caused by excessive insulin. Persistent infant hyperinsulinemic hypoglycemia definition. Nov 01, 2000 diagnostic features of persistent hyperinsulinemia of infancy persistent hyperinsulinemia of infancy originally was defined as the pathologic entity nesidioblastosis, which denoted nests of islets in close proximity to pancreatic ductules and presumed an abnormality of neoislet formation as the etiology of the excessive insulin secretion. Persistent hyperinsulinemic hypoglycemia of infancy an overview. Persistent hyperinsulinemic hypoglycemia of infancy. The persistent hyperinsulinemia hypoglycemia of infancy, also named congenital hyperinsulinism chi, is a complex disorder composed of clinical, morphologic, and genetic changes shah et al. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar hypoglycemia that can even occur after eating. The aim of this study was to investigate the longterm outcome of six children with persistent hyperinsulinemic hypoglycemia of infancy phhi after pancreatectomy who have been followed. A point mutation inactivating the sulfonylurea receptor.
The patients were assessed radiologically by mri of the brain and by. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of persistent hypoglycemia in neonates and infants. Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion. Persistent hyperinsulinemic hypoglycemia of infancy phhi is a rare disease characterized clinically by persistent hypoglycemia with inappropriately elevated circulating insulin concentrations. Persistent hyperinsulinemic hypoglycemia of infancy phhi is relatively rare but one of the most important causes of severe neonatal hypoglycemia. Desai and khatri persistent hyperinsulinemic hypoglycemia of infancy in 3 infants by 23 months table i the age at referral ranged between few hours of birth to 15 months intrafamilial variation in the age at onset and severity of the dis ease was noted in one pair of siblings nos. The focal form of persistent hyperinsulinemic hypoglycemia of.
Clinical brief persistent hyperinsulinemic hypoglycemia of infancy due to homozygous kcnj11 t294m mutation v. In infants and young children, these episodes are characterized by. Persistent hyperinsulinemic hypoglycemia of infancy an. Affected children run the risk of severe neurological damage unless immediate and adequate steps are taken. Hyperinsulinemic hypoglycemia is defined as inappropriately elevated plasma insulin concentration in the presence of hypoglycemia infants receiving glucose infusion rate gir of more than 8mgkg. Persistent hyperinsulinemia hypoglycemia of infancy.
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