People with this condition have frequent episodes of low blood sugar hypoglycemia. Neonatalonset disease manifests within hours to two days after birth. Patient history eg, diabetes, drug history should guide the investigation. Hyperinsulinism is the most common cause of persistent or re current hypoglycemia in infancy persistent hyperinsulinemic hypoglycemia of infancy phhi1 1. We report the case of a transient hypoglycemia secondary to idiopathic intermittent hyperinsulinism in a twodayold newborn. 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. Although one of the manifestations of hypoglycemia is west syndrome, it is rarely reported in phhi. Persistent hyperinsulinaemic hypoglycaemia of infancy.
In infants and young children, these episodes are characterized by a lack of energy lethargy, irritability, or difficulty feeding. 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 listed as phhi. Mild cases can be treated by frequent feedings, more severe. 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. Phhi is defined as persistent hyperinsulinemic hypoglycemia of infancy somewhat frequently. Explore more on persistent hyperinsulinemia hypoglycemia of infancy below.
Pitfalls in the evaluation of spontaneous hyperinsulinemic. Meaning of persistent hyperinsulinemia hypoglycemia of infancy. 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. Mutations in the abcc8 and kcnj11 genes, which encode subunits of the atp. Persistent hyperinsulinemic hypoglycemia of infancy in 38. Therapy for persistent hyperinsulinemic hypoglycemia of. 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 association of hyperinsulinemic hypoglycemia hih and trisomy has been described in four published case reports. These conditions are present at birth and most become apparent in early infancy. Persistent hyperinsulinemic hypoglycemia of infancy is caused by inappropriate and excessive secretion of insulin. Phhi persistent hyperinsulinemic hypoglycemia of infancy. Persistent hyperinsulinemic hypoglycemia of infancysuccessful. The syndrome of persistent hyperinsulinaemic hypoglycaemia of infancy phhi was described more than 40 years ago by mc quarrie. Phhi stands for persistent hyperinsulinemic hypoglycemia of infancy. 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. 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.
Each resected pancreas was cut into thin 1 to 2mm slices. Pdf persistent hyperinsulinemic hypoglycemia of infancy phhi is relatively rare but one of the most important causes of severe neonatal. Patients of phhi usually presented with poor feeding, lethargy and irritability, or more severe symptoms such as apnoea, seizures or even coma 47. Trisomy t patau syndrome, was first described by patau in 1960. Although an excellent argument for the designation phhi has been made, the term nesidioblastosis is more commonly used. Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Persistent hyperinsulinemic hypoglycemia of infancy. 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. Information and translations of persistent hyperinsulinemia hypoglycemia of infancy in the most comprehensive dictionary definitions resource on the web. Hyperinsulinemia and hypoglycemia whats the difference. The main concern in the management of phhi is to prevent severe hypoglycemia, which can lead to coma, brain damage and mental retardation.
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. Congenital forms of hyperinsulinemic hypoglycemia can be transient or persistent, mild or severe. Hyperinsulinism, though rare, is the most common cause of persistent hypoglycemia in infancy. Persistent hyperinsulinemic hypoglycemia in infants. Hyperinsulinemic hypoglycemia of infancy the journal of pediatrics. Total or subtotal pancreatectomy is normally required for the infants, despite the. Click on the link to view a sample search on this topic. Clinical profile and outcome of persistent hyperinsulinemic hypoglycemia of infancy. The hyperinsulinemic hypoglycemic clamp is a variant of the glucose clamp technique designed to assess counterregulatory hormone responses under standardized conditions of experimental hypoglycemia. 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.
Hypoglycemic clamps have been extensively used in studies of the pathophysiology of iatrogenic hypoglycemia. Persistent hyperinsulinemic hypogylcemia in infants medscape. Hypoglycemia is also commonly connected with diabetes but there are also other conditionssituations that can can cause a persons to become hypoglycemic. Persistent hyperinsulinemic hypoglycemia of infancy phhi is relatively rare but one of the most important causes of severe neonatal hypoglycemia. Phhi was first described more than 40 years ago by mcquarrie4 and usually. The cause should be investigated so that underlying conditions can be corrected. Hypoglycemia is the most common biochemical finding in the neonatal period. It is also referred to as congenital hyperinsulinism chi, familial hyperinsulinemic hypoglycemia, and primary islet cell hypertrophy nesidioblastosis. 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. Congenital hyperinsulinism is a medical term referring to a variety of congenital disorders in which hypoglycemia is caused by excessive insulin secretion. Congenital hyperinsulinism hi is a rare derangement of glucose metabolism, which carries an estimated.
Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most important cause of hypoglycemia in early infancy. Exerciseinduced hyperinsulinemic hypoglycemia genetic. Incidence of neonatal hypoglycemia is variable in different parts of the world, depending on definition of the condition and the methods of glucose estimation. 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. Manifestations of hyperinsulinemic hypoglycemia vary by age and severity of the hypoglycemia. 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. Symptomatic hypoglycemia that is corrected with the administration of glucose is characteristic of hyperinsulinemic hypoglycemia. Medications used in the treatment of hypoglycemia due to congenital hyperinsulinism of infancy hi. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of persistent hypoglycemia in neonates and infants. Childhoodonset disease manifests during the first months or years of life. 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. Persistent hyperinsulinemic hypoglycemia of infancy phhi represents the most common cause of hyperinsulinism in neonates. Pdf persistent hyperinsulinemic hypoglycemia of infancy is rare genetic disorder, occurs due to unregulated insulin secretion instead of.
Congenital hyperinsulinism genetics home reference nih. The excessive secretion of insulin is responsible for profound hypoglycemia and requires aggressive treatment to prevent severe and irreversible brain damage. Evaluation and management of persistent hypoglycemia in. Hyperinsulinemic hypoglycemia in infancy indian pediatrics. Varadarajan poovazhagi, ananthanarayanan k, mirna k, jahnavi suresh, radha venkatesan, v mohan. Persistent hyperinsulinemic hypoglycemia of infancy article in annals of pediatric surgery 74. A few miscellaneous symptoms are harder to attribute to either of these. 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. Persistent hyperinsulinemic hypoglycemia of infancy how is persistent hyperinsulinemic hypoglycemia of infancy abbreviated. Persistent hyperinsulinemic hypoglycemia springerlink.
The diagnosis was evoked on clinical data, intermittent hyperinsulinemia, endocrine screening and magnetic resonance imaging mri brain and pancreatic normal. Pdf persistent hyperinsulinemic hypoglycemia of infancy. Exaggerated insulin secretion occurs in a variety of different states in the neonate with resultant hypoglycemia. What does persistent hyperinsulinemia hypoglycemia of infancy mean. The following treatments were effective in treating individual patients. Persistent hyperinsulinemic hypoglycemia of infancy how. Pediatric intensive care, institute of child health and hospital for children, chennai. Knowledge of blood glucose homeostasis and appropriate investigations. Pdf persistent hyperinsulinemic hypoglycemia of infancycase.
If untreated, it results in hypoglycemic convulsions and the. Phhi is a genetic disorder with familial and sporadic forms, both. Define persistent infant hyperinsulinemic hypoglycemia. Loss of functional katp channels in pancreatic betacells causes persistent hyperinsulinemic hypoglycemia of infancy. From birth, he had severe vomiting and diarrhea of unknown. Infants with lateonset hypoglycemia 3 months of age and hypoglycemic children were excluded from this study. 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. Persistent hyperinsulinemic hypoglycemia presenting with a. What does persistent hyperinsulinemia hypoglycemia of. Few cases of persistent hyperinsulinemic hypoglycemia of infancy phhi have been reported, so far. Diazoxide therapy a drug that lowers insulin production diazoxide therapy and partial pancreatectomy surgical removal of a portion of the pancreas exercise avoidance. Request pdf persistent hyperinsulinemic hypoglycemia of infancy congenital hyperinsulinism chi is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood.
Definition of persistent hyperinsulinemia hypoglycemia of infancy in the dictionary. It was first identified in 1938, when laidlaw coined the term nesidioblastosis to describe the neodifferentiation of islets of langerhans from pan. 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. Hyperinsulinemic hypoglycemia can be transient, prolonged or persistent congenital. Food aversion among patients with persistent hyperinsulinemic hypoglycemia of infancy alshanafey, saud. Hyperinsulinemic hypoglycemia hh is the commonest cause of persistent hypoglycemia in the neonatal and infancy periods. Laidlaw 1 in 1938 coined the term nesidioblastosis based on his understanding of a diffuse ductoendocrine. Hypoglycemia may constitute a medical emergency, as it can result in permanent neurologic defects or death.
Persistent hyperinsulinaemic hypoglycaemia in infancy. Persistent hyperinsulinemic hypoglycemia of infancy meena p. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of recurrent hypoglycemia in neonates and infants. It is persistent hyperinsulinemic hypoglycemia of infancy. Familial persistent hyperinsulinemic hypoglycemia of. Although rare, this disorder is the most common cause of persistent hyperinsulinemia in children. Although the disease is rare in outbred communities approximately 1 case per 50,0. Pubmed is a searchable database of medical literature and lists journal articles that discuss exerciseinduced hyperinsulinemic hypoglycemia. 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. 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. Persistent hyperinsulinemia hypoglycemia of infancy. Persistent hyperinsulinemic hypoglycemia of infancy phhi is the most common cause of severe, prolonged neonatal hypoglycemia, occurring in 1 in 50,000 births.
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