Persistent hyperinsulinemic hypoglycemia of infancy phhi is characterized by disproportional secretion of insulin from pancreatic betacells. Neonatalonset disease manifests within hours to two days after birth. Pediatric intensive care, institute of child health and hospital for children, chennai. Persistent hyperinsulinemic hypoglycemia of infancy phhi represents the most common cause of hyperinsulinism in neonates. A 6 monthold girl who was followed up with the diagnosis of phhi was admitted to hospital with the complaint. It is the third most frequent trisomy amo the most frequent types of malformations involve the central nervous mainly holoprosencephaly, microcephaly, severe psychomotor delay and cardiovascular systems atrial septal defect or patent ductus arteriosus. There is limited information regarding the treatment of exercise induced hyperinsulinemic hypoglycemia. Pdf persistent hyperinsulinemic hypoglycemia of infancy. From birth, he had severe vomiting and diarrhea of unknown. Patient history eg, diabetes, drug history should guide the investigation.
Familial persistent hyperinsulinemic hypoglycemia of. Hyperinsulinemic hypoglycemia of infancy the journal of pediatrics. Persistent hyperinsulinemic hypoglycemia of infancy listed as phhi. Clinical profile and outcome of persistent hyperinsulinemic hypoglycemia of infancy. Information and translations of persistent hyperinsulinemia hypoglycemia of infancy in the most comprehensive dictionary definitions resource on the web. Although an excellent argument for the designation phhi has been made, the term nesidioblastosis is more commonly used. Loss of functional katp channels in pancreatic betacells causes persistent hyperinsulinemic hypoglycemia of infancy. Khatri from the department of pediatrics, sir hurkisondas nurrotumdas hospital and research center, raja rammohan roy road, bombay 400 004 reprint requests dr mrs meena p. A few miscellaneous symptoms are harder to attribute to either of these. Request pdf persistent hyperinsulinemic hypoglycemia of infancy congenital hyperinsulinism chi is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. Congenital forms of hyperinsulinemic hypoglycemia can be transient or persistent, mild or severe. The hyperinsulinemic hypoglycemic clamp is a variant of the glucose clamp technique designed to assess counterregulatory hormone responses under standardized conditions of experimental hypoglycemia. Knowledge of blood glucose homeostasis and appropriate investigations.
Explore more on persistent hyperinsulinemia hypoglycemia of infancy below. In infants and young children, these episodes are characterized by a lack of energy lethargy, irritability, or difficulty feeding. Hypoglycemia is also commonly connected with diabetes but there are also other conditionssituations that can can cause a persons to become hypoglycemic. 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. Few cases of persistent hyperinsulinemic hypoglycemia of infancy phhi have been reported, so far. These conditions are present at birth and most become apparent in early infancy. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of persistent hypoglycemia in neonates and infants. Objective to study the nature and clinical course of persistent hyperinsulinemic hypoglycemia of infancy phhi due to nesidioblastosis design clinical. 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. Although rare, this disorder is the most common cause of persistent hyperinsulinemia in children.
Persistent hyperinsulinemic hypoglycemia of infancy. The association of hyperinsulinemic hypoglycemia hih and trisomy has been described in four published case reports. Evaluation and management of persistent hypoglycemia in. Persistent hyperinsulinaemic hypoglycaemia of infancy. Pdf persistent hyperinsulinemic hypoglycemia of infancycase. In general, hyperinsulinemic hypoglycemia in these cases is familial and occurs in neonates or childhood, but age of onset and severity of symptoms can vary markedly. Persistent hyperinsulinemic hypoglycemia of infancy how is persistent hyperinsulinemic hypoglycemia of infancy abbreviated.
Hypoglycemia is the most common biochemical finding in the neonatal period. Persistent hyperinsulinemic hypogylcemia in infants medscape. Hyperinsulinism is the most common cause of persistent or re current hypoglycemia in infancy persistent hyperinsulinemic hypoglycemia of infancy phhi1 1. 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 min, with suppressed ketone bodies and free fatty acids and a positive glycemic response to parenteral glucagon.
Symptomatic hypoglycemia that is corrected with the administration of glucose is characteristic of hyperinsulinemic hypoglycemia. Persistent hyperinsulinemia hypoglycemia of infancy bioinformatics tool laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on cocitations. Mutations in the abcc8 and kcnj11 genes, which encode subunits of the atp. It is also referred to as congenital hyperinsulinism chi, familial hyperinsulinemic hypoglycemia, and primary islet cell hypertrophy nesidioblastosis. Persistent hyperinsulinemic hypoglycemia of infancysuccessful. What does persistent hyperinsulinemia hypoglycemia of. 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. Although one of the manifestations of hypoglycemia is west syndrome, it is rarely reported in phhi. Laidlaw 1 in 1938 coined the term nesidioblastosis based on his understanding of a diffuse ductoendocrine. If untreated, it results in hypoglycemic convulsions and the. Persistent hyperinsulinemic hypoglycemia springerlink. Persistent hyperinsulinemic hypoglycemia of infancy in 38.
Diazoxide therapy a drug that lowers insulin production diazoxide therapy and partial pancreatectomy surgical removal of a portion of the pancreas exercise avoidance. Hypoglycemic clamps have been extensively used in studies of the pathophysiology of iatrogenic hypoglycemia. Phhi is defined as persistent hyperinsulinemic hypoglycemia of infancy somewhat frequently. Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy hi. 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.
Persistent hyperinsulinemic hypoglycemia of infancy is caused by inappropriate and excessive secretion of insulin. Exerciseinduced hyperinsulinemic hypoglycemia genetic. Trisomy t patau syndrome, was first described by patau in 1960. Congenital hyperinsulinism hi is a rare derangement of glucose metabolism, which carries an estimated. Meaning of persistent hyperinsulinemia hypoglycemia of infancy. Childhoodonset disease manifests during the first months or years of life.
Hyperinsulinism, though rare, is the most common cause of persistent hypoglycemia in infancy. The excessive secretion of insulin is responsible for profound hypoglycemia and requires aggressive treatment to prevent severe and irreversible brain damage. Persistent hyperinsulinemic hypoglycemia in infants. Pubmed is a searchable database of medical literature and lists journal articles that discuss exerciseinduced hyperinsulinemic hypoglycemia. Pdf persistent hyperinsulinemic hypoglycemia of infancy phhi is relatively rare but one of the most important causes of severe neonatal. Hyperinsulinemic hypoglycemia can be transient, prolonged or persistent congenital. We report the case of a transient hypoglycemia secondary to idiopathic intermittent hyperinsulinism in a twodayold newborn. Although the disease is rare in outbred communities approximately 1 case per 50,0. The syndrome of persistent hyperinsulinaemic hypoglycaemia of infancy phhi was described more than 40 years ago by mc quarrie. Total or subtotal pancreatectomy is normally required for the infants, despite the. Pdf persistent hyperinsulinemic hypoglycemia of infancy is rare genetic disorder, occurs due to unregulated insulin secretion instead of.
Exaggerated insulin secretion occurs in a variety of different states in the neonate with resultant hypoglycemia. Congenital hyperinsulinism genetics home reference nih. Persistent hyperinsulinemic hypoglycemia of infancy phhi is relatively rare but one of the most important causes of severe neonatal hypoglycemia. For instance, taking someone elses oral diabetes medications, side affects of other medications such as, quinine, or too much alcohol consumed can cause the sugar levels to drop dramatically. Pitfalls in the evaluation of spontaneous hyperinsulinemic. Varadarajan poovazhagi, ananthanarayanan k, mirna k, jahnavi suresh, radha venkatesan, v mohan. People with this condition have frequent episodes of low blood sugar hypoglycemia. Incidence of neonatal hypoglycemia is variable in different parts of the world, depending on definition of the condition and the methods of glucose estimation. In general, most signs and symptoms can be attributed to 1 the effects on the brain of insufficient glucose neuroglycopenia or 2 to the adrenergic response of the autonomic nervous system to hypoglycemia. 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. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of severe, prolonged neonatal hypoglycemia, occurring in 1 in 50,000 births.
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. The diagnosis was evoked on clinical data, intermittent hyperinsulinemia, endocrine screening and magnetic resonance imaging mri brain and pancreatic normal. 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. How is persistent hyperinsulinemic hypoglycemia of infancy abbreviated. Phhi was first described more than 40 years ago by mcquarrie4 and usually.
Therapy for persistent hyperinsulinemic hypoglycemia of. Persistent hyperinsulinemic hypoglycemia of infancy an overview. Definition of persistent hyperinsulinemia hypoglycemia of infancy in the dictionary. Persistent hyperinsulinemic hypoglycemia presenting with a. Manifestations of hyperinsulinemic hypoglycemia vary by age and severity of the hypoglycemia. 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.
Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Click on the link to view a sample search on this topic. Persistent hyperinsulinemic hypoglycemia of infancy article in annals of pediatric surgery 74. Hypoglycemia may constitute a medical emergency, as it can result in permanent neurologic defects or death. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most important cause of hypoglycemia in early infancy. Persistent hyperinsulinemic hypoglycemia of infancy phhi, though rare, is the most common cause of neonatal hypoglycemia persisting beyond the first few hours of life. The following treatments were effective in treating individual patients. Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion. What does persistent hyperinsulinemia hypoglycemia of infancy mean. Hyperinsulinemic hypoglycemia hh is the commonest cause of persistent hypoglycemia in the neonatal and infancy periods. Patients of phhi usually presented with poor feeding, lethargy and irritability, or more severe symptoms such as apnoea, seizures or even coma 47. Each resected pancreas was cut into thin 1 to 2mm slices. It is persistent hyperinsulinemic hypoglycemia of infancy.
Hyperinsulinemic hypoglycemia in infancy indian pediatrics. Persistent hyperinsulinaemic hypoglycaemia in infancy. Define persistent infant hyperinsulinemic hypoglycemia. 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. Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy alshanafey, saud.
Persistent hyperinsulinemic hypoglycemia of infancy how. Phhi persistent hyperinsulinemic hypoglycemia of infancy. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia ritika r kapoor, chela james and khalid hussain introduction hyperinsulinemic hypoglycemia hh occurs as a consequence of inappropriate and unregulated secretion of insulin by pancreatic. Hyperinsulinemia and hypoglycemia whats the difference. Persistent hyperinsulinemia hypoglycemia of infancy. The main concern in the management of phhi is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation. Mild cases can be treated by frequent feedings, more severe. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of recurrent hypoglycemia in neonates and infants.
For decades, the disease has been ascribed to nesidioblastosis. Persistent hyperinsulinism is a genetically heterogeneous condition associated with excessive insulin production and, although rare, it is the most common cause of severe, persistent hypoglycemia beyond the immediate neonatal period. Preeti shanbag, ashish pathak, mamta vaidya and sukhbir kaur. Phhi stands for persistent hyperinsulinemic hypoglycemia of infancy. The cause should be investigated so that underlying conditions can be corrected. Partial or neartotal pancreatectomy specimens were obtained from 50 infants suffering from diazoxideresistant hyperinsulinemic hypoglycemia of neonatal onset.
Persistent hyperinsulinemic hypoglycemia of infancy meena p. It was first identified in 1938, when laidlaw coined the term nesidioblastosis to describe the neodifferentiation of islets of langerhans from pan. Phhi is a genetic disorder with familial and sporadic forms, both. Infants with lateonset hypoglycemia 3 months of age and hypoglycemic children were excluded from this study. Trisomy has a wide array of phenotypic variability, usually with a very short lifespan rarely extending beyond infancy.
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