Prevención de hipoglicemia neonatal en recién nacidos con factores de riesgo mediante la administración bucal de una dosis de gel de dextrosa al 40%: ensayo clínico aleatorizado / Prevention of neonatal hypoglycemia in newborns with risk factors by buccal administration of a dose of 40% dextrose gel: randomized clinical trial / Prevenção da hipoglicemia neonatal em recém-nascidos com fatores de risco através da ingestão bucal de gel de dextrose no 40%: ensaio clínico randomizado

Introducción: la hipoglicemia neonatal es un trastorno metabólico frecuente en neonatos, con mayor incidencia en aquellos con factores de riesgo como ser hijos de madre diabética, pequeño para la edad gestacional y pretérmino tardíos. Material y métodos: se realizó un ensayo analítico aleatorizado, controlado por placebo para evaluar la eficacia de la administración de gel de dextrosa al 40% para la prevención de hipoglicemia neonatal en esta población. Se reclutaron un total de 120 pacientes. Resultados: se encontró una menor incidencia de hipoglicemia neonatal al compararla con la incidencia reportada en la literatura internacional. No se encontraron diferencias estadísticamente significativas en cuanto al número de ingresos a áreas de internación para tratamiento de hipoglicemia ni en la alimentación a pecho directo exclusivo al alta entre los grupos. Conclusiones: el gel de dextrosa al 40% en recién nacidos podría ser un tratamiento alternativo para profilaxis de hipoglicemia en recién nacidos con factores de riesgo.

Introduction: neonatal hypoglycemia is a frequent metabolic disorder in neonates, with a higher incidence in those with risk factors such as being children of diabetic mothers, small for gestational age, and late preterm. Methodology: a randomized, placebo controlled analytic trial was conducted to evaluate the efficacy of 40% dextrose gel administration for the prevention of neonatal hypoglycemia in this population. A total of 120 patients were recruited. Results: a lower incidence of neonatal hypoglycemia was found when compared to the incidence reported in the international literature. No statistically significant differences were found in terms of the number of admissions to inpatient areas for hypoglycemia treatment or exclusive direct breastfeeding at discharge between the groups. Conclusions: 40% dextrose gel in newborns could be an alternative treatment for hypoglycemia prophylaxis in newborns with risk factors.

Introdução: a hipoglicemia neonatal é um disturbio metabólico comum em neonatos, com maior incidencia naqueles que apresentam fatores de risco, tais como filhos de mães diabéticas, pequenos para a idade gestacional e prematuros tardios. Metodologia: foi realizado um ensaio analítico randomizado e controlado por placebo para avaliar a eficácia da administração de gel de dextrose a 40% para prevenção de hipoglicemia neonatal nesta população. Um total de 120 pacientes foram recrutados. Resultados: foi encontrada menor incidência de hipoglicemia neonatal quando comparada com a incidência relatada na literatura internacional. Não foram encontradas diferenças estatisticamente significativas relativas ao número de internações em áreas de internação para tratamento de hipoglicemia ou aleitamento materno direto exclusivo para descarga entre os grupos. Conclusões: o gel de dextrose a 40% em recém nascidos pode ser uma alternativa de tratamento para profilaxia de hipoglicemia em recém nascidos com fatores de risco.

Hiperinsulinismo congénito: caracterización de pacientes atendidos en un hospital universitario pediátrico en Colombia / Congenital hyperinsulinism: characterization of patients treated in a pediatric university hospital in Colombia

Resumen Introducción: El hiperinsulinismo congénito es una enfermedad del metabolismo de la glucosa, fundamental en la endocrinología pediátrica, ya que se refiere a la producción de mayor cantidad de insulina de la necesaria según la glucemia, lo cual produce hipoglucemias graves persistentes. Esta alteración puede tener importantes secuelas neurológicas debido al daño irreversible que se produce en la neurona por la exposición a la hipoglucemia por cortos periodos de tiempo. Su diagnóstico no es sencillo y requiere un alto índice de sospecha. El tratamiento se establece de manera secuencial, en varias etapas, observando la respuesta a cada uno de los posibles medicamentos empleados. En caso de que falle el manejo farmacológico, se requieren procedimientos quirúrgicos. Serie de casos: Se presentan siete casos de hiperinsulinismo congénito que fueron diagnosticados en los últimos 7 años en el Instituto Roosevelt en Bogotá, Colombia. En este país, el radiotrazador empleado usualmente durante la tomografía por emisión de positrones (PET/TC) no se encuentra disponible. Sin embargo, en uno de los casos descritos fue posible emplear otro radiotrazador alternativo que permitió un adecuado diagnóstico y un tratamiento quirúrgico exitoso. Conclusiones: El hiperinsulinismo congénito es una condición clínica compleja que amerita un correcto diagnóstico y un apropiado manejo, con el objetivo de evitar el daño neurológico que producen las hipoglucemias persistentes. Es posible emplear PET/TC con un radiotrazador adecuado para realizar un diagnóstico oportuno y proporcionar la mejor opción terapéutica disponible.

Abstract Background: Congenital hyperinsulinism is a disease of the glucose metabolism, relevant in pediatric endocrinology because of the elevated production of insulin according to blood glucose level, which leads to persistent severe hypoglycemia. This condition can produce important neurological sequelae in the patient due to the irreversible damage that occurs in the neuron caused by the exposure to hypoglycemia for short periods of time. Congenital hyperinsulinism diagnosis is not simple and it requires a high index of suspicion. The treatment should be established sequentially, in several steps, noticing the response to each possible medication used. If the pharmacological management fails, surgical procedures are required occasionally. Case series report: Seven cases of congenital hyperinsulinism diagnosed in the last seven years at the Instituto Roosevelt in Bogotá, Colombia are presented. In this country, the radiotracer used internationally during positron emission tomography/computed tomography (PET/CT) is not available. However, was possible to use an alternative radiotracer in one of the cases, which led to an adequate diagnosis and a successful surgical treatment. Conclusions: Congenital hyperinsulinism is a complex clinical condition, which requires proper diagnosis and treatment, with the aim of avoiding any neurological damage caused by persistent hypoglycemia. PET/CT can be used with an appropriate radiotracer for a timely diagnosis and to provide the best available therapeutic option.

Tracer Accumulation in Relation to Venous Thrombus on ¹⁸F-DOPA PET/CT in a Case of Persistent Hyperinsulinemic Hypoglycemia of Infancy / 대한핵의학회잡지

¹⁸F-DOPA PET/CT is commonly done in patients with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) to look for any focal lesion in the pancreas.We present the findings in a 20-day-old neonate with PHHI who underwent ¹⁸F-DOPA PET/CT. The scan showed diffuse uptake in the pancreas with no focal lesion, physiologic excretion into the genito-urinary system, and interestingly tracer accumulation was seen in the inferior vena cava and ilio-femoral veins which is a non-physiological site for tracer accumulation. The uptake corresponded to a large venous thrombus which was confirmed by a venous Doppler.

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes

SUMMARY Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c.3576delG and c.742C>T) was concluded. They did not benefit from diazoxide therapy (or pancreatectomy performed in patient number 1) yet responded to somatostatin analogues. Patient number 1 developed various neurological deficits (including epilepsy), however patient number 2 experienced an entirely normal neurodevelopment. We believe this case shows how previous knowledge of the firstborn sibling's disease contributed to a better and timelier medical care in patient number 2, which could potentially explain her better neurological outcome despite their same genotype.

Hiperinsulinismo congénito del recién nacido: A propósito de un caso clínico / Congenital hyperinsulinism of the newborn: a case report

El hiperinsulinismo congénito (HC) es la causa más frecuente de hipoglicemia persistente del recién nacido (RN), y se caracteriza por secreción no regulada de insulina frente a hipoglicemia. El manejo inicial es médico, pero en caso de fracaso, la pancreatectomía parcial es el tratamiento quirúrgico de elección. Objetivo: Comunicar el caso de un RN con HC con énfasis en el estudio genético, de imágenes y manejo quirúrgico, incluyendo la cirugía laparoscópica. Caso clínico: RN de término, con hipoglicemia prolongada por HC que no respondió al tratamiento médico. La ultrasonografía y resonancia nuclear magnética abdominal fueron normales. PET/CT Galio 68 evidenció aumento de metabolismo glucídico focalizado en el cuerpo pancreático. Se realizó pancreatectomía córporo-caudal laparoscópica sin incidentes, con mejoría de la hipoglicemia. El estudio genético fue compatible con HC focal, confirmado luego por biopsia. Conclusión: Se expone acerca de las características clínicas y diagnóstico del HC, en particular el rol de la cirugía y ventajas del abordaje laparoscópico.

Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn and it is characterized by an inappropriately elevated insulin level in presence of hypoglycemia. Initial management is medical treatment, but if it fails, partial pancreatectomy is the surgical procedure of choice. Objective: To report a case of a newborn with CH to aware on this condition and update its multidisciplinary management. Case report: The case of a full term newborn with severe symptomatic hypoglycemia unresponsive to medical treatment is reported . Ultrasonography and abdominal MRI were normal, Gallium 68 PET/CT showed uptake in the body of the pancreas. Laparoscopic corporocaudal pancreatectomy was performed. The patient resolved hypoglycemia and was discharged without incidents. Genetic study was consistent with focal CH, confirmed later by biopsy. Discussion: This case report exposes the clinical presentation of CH and its diagnosis. It emphasizes on the surgical treatment and the advantages of minimally invasive technique.

Hyperinsulinemic response to oral glucose in obese patients with essential hypertension

Background and objectives: Hypertension is a common health problem. The prevalence of hypertension increases progressively with increasing Body Mass Index. The aim of this study is to investigate changes in blood pressure (BP), plasma glucose (PG) and insulin level after ingestion of oral glucose; and to assess the relation between insulin level and BP in obese and non-obese normo-tensive and hypertensive subjects. Materials and Methods: Seventy five g glucose dissolved in 250 ml of water was given orally to 20 fasting newly diagnosed untreated patients with essential hypertension and 15 normo-tenisve control subjects matched for age, gender and Body Mass Index (BMI). Smokers and subjects with diabetes, hyperlipidemia, cardiac or renal disease or those taking medications were excluded. Subjects were monitored for 2 hours.Half hourly BP, PG and insulin were measured. Results: Subjects were classified into obese (BMI≥ 30 Kg/m2) (11 patients, 8 normo-tensives) and nonobese (BMI< 30 Kg/m2) (9 patients, 7 normo-tensives). In obese hypertensive patients, insulin showed significant positive correlation with: systolic BP (SBP) (P=.04), diastolic BP (DBP) (P=.04) and mean BP(MBP)(P=.03). Obese hypertensive patients showed a significantly higher insulin response to oral glucose than obese normo-tensive subjects (P=.02).In obese and non-obese hypertensive patients glucose intake was associated with significant drop in DBP((P≤ .005), (P< .05)) and MBP ((P< .005), (P< .05)) respectively.Conclusions: In obese hypertensive patients, the hyperinsulinemic response to oral glucose and the positive correlation of insulin with BP suggest that insulin may be involved in development of essential hypertension especially in obese patients

Images from ¹⁸F-DOPA Scan in Congenital Hyperinsulinism: Not Always a Clue for Diagnosis / 대한핵의학회잡지

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in childhood (Horm Res 70:65-72, 2008; J Clin Endocr Metab 93:869-875, 2008). ¹⁸⁻Fluoro-L-dihydroxy-phenylalanine (¹⁸F-DOPA) positron emission tomography (PET) can detect areas of increased activity in the pancreas and may differentiate focal from diffuse CHI (J Clin Endocr Metab 93:869-875, 2008; Radiology 253:216-222, 2009). We here report the case of a girl who complained of recurrent episodes of severe hypoglycaemia despite previous partial pancreatectomy. To evaluate the need for additional surgical intervention, we performed ¹⁸F-DOPA PET/computed tomography (CT), which showed a focal lesion corresponding to the anatomical region of the pancreatic tail. On the other hand, abdominal magnetic resonance imaging (MRI) clearly demonstrated that the ¹⁸F-DOPA uptake was in a loop of bowel occupying the previous surgical bed. Our case highlights that bowel uptake can be a possible pitfall in the interpretation of ¹⁸F-DOPA PET/CT in children affected by CHI, suggesting that when ¹⁸F-DOPA PET/CT results do not fit the clinical picture, magnetic resonance imaging (MRI) may allow a more accurate correlation of the radiotracer activity with the underlying anatomical or pathological structure.

Congenital hyperinsulinism: diagnostic and management challenges in a developing country – case report

Management of congenital hyperinsulinemia of infancy (CHI) is challenging. A 4-month-old female infant with persistent hypoglycemia and elevated insulin levels was diagnosed with CHI. Gallium-68 DOTANOC positron emission tomography/computed tomography (PET/CT) scan (⁶⁸Ga-labeled [1,4,7,10-tetraazacyclododecane-N,N’,N’’,N’’’-tetraacetic acid]-1-NaI3-octreotide) demonstrated focal disease in the body of the pancreas. Genetic studies indicated paternal inheritance, making focal disease likely. She was started on diazoxide therapy with partial improvement in blood glucose levels. Due to a suboptimal response to diazoxide and the likelihood of focal disease amenable to surgery, a laparoscopic subtotal pancreatectomy with preservation of the head of the pancreas was performed. The biopsy demonstrated diffuse hyperplastic pancreatic islet cells on immunohistochemistry, indicative of diffuse rather than focal disease. Paternal inheritance is a recognized indicator of focal disease. Gallium-68 DOTANOC PET/CT scan is the only available imaging modality in South India as ¹⁸F-L-dihydroxyphenylalanine (DOPA) PET/CT scan is not available at present. A laparoscopic approach reduces the postoperative recovery time and morbidity in such patients. The absence of ¹⁸F-L-DOPA PET/CT scan and the limited supply of diazoxide makes the management of this complex condition more challenging in developing countries.

A case report on congenital hyperinsulinism associated with ABCC8 nonsense mutation: Good response to octreotide / Journal of the ASEAN Federation of Endocrine Societies

@#<p style="text-align: justify;">A 2.4 kg baby boy born via Caesarian section at 35 weeks had the first onset of hypoglycemia at 2 hours of life. The infant required a glucose load of 30 mg/kg/min. Insulin level was 19.6 pmol/L (normal value 17.8-173.0) in the absence of ketosis. He was resistant to oral diazoxide but responded to octreotide infusion. The boy was found to be heterozygous for an ABCC8 nonsense mutation, p.R934*. We present our experience on the use of subcutaneous octreotide for 2 years for the treatment of diazoxide resistant congenital hyperinsulinism (CHI).</p>

A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism / 소아과

Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively. We report the case of a female newborn infant who presented with repetitive seizures and episodes of apnea after birth, because of hypoglycemia. Investigations revealed hypoglycemia with hyperinsulinemia, but no ketone bodies, and a low level of free fatty acids. High dose glucose infusion, enteral feeding, and medications could not maintain the patient's serum glucose level. Genetic testing revealed a new variation of ABCC8 mutation. Therefore, we report this case of CHI caused by a novel mutation of ABCC8 in a half-Korean newborn infant with diazoxide-unresponsive hyperinsulinemic hypoglycemia.

Minimally invasive surgical interventions in the treatment of primary persistent hyperinsulinemic hypoglycemia of infancy

Hyperinsulinemia, diagnosed by laboratory tests, should be diagnosed and treated as soon as possible to prevent fatal complications such as neurological damage. Patients who are resistant to medical therapy should be treated surgically. Minimally invasive surgery, a newly developed approach, is a good choice among surgical procedures to avoid unnecessary extensive pancreatectomy. Here, a 12-year-old boy is presented with diagnosis of hyperinsulinemic hypoglycemia who had recurrent attacks of hypoglycemia and seizures from infancy. Because of his unresponsiveness to medical therapy and his family’s preference, he underwent laparoscopic pancreatectomy to reduce morbidity and hospital stay. Two years postsurgical follow-up revealed a normo-glycemic state.

Energy intake underreporting of adults in a household survey: the impact of using a population specific basal metabolic rate equation / Subestimativa da ingestão energética em amostra probabilística de adultos: o impacto do uso de equações específicas para taxa metabólica basal / Subestimación de la ingesta energética en una muestra probabilística de adultos: el impacto del uso de ecuaciones específicas para la tasa metabólica basal

The purpose of the present study was to identify energy intake (EI) underreporting and to estimate the impact of using a population specific equation for the basal metabolic rate (BMR) in a probability sample of adults from Niterói, Rio de Janeiro State, Brazil. A sample of 1,726 subjects participated in the study. EI was assessed by a 24-hour dietary recall and EI/BMR was computed with BMR estimated using internationally recommended equations as well as specific equations developed for the adult population of Niterói. Mean EI was 1,570.9 and 2,188.8kcal.day-1 for women and men, respectively. EI decreased with increasing age in both men and women. BMR estimated by the Brazilian equation was significantly lower than the values estimated by the international equation for all age, sex and nutritional status groups. In general, EI underreporting was found in at least 50% of the population, higher in women, and increased with increasing age and body mass index (BMI). The results of the present study confirm that EI is underreported, even when BMR is estimated using population-specific equations.

O objetivo do presente estudo foi identificar a subestimativa da ingestão energética (IE) e estimar o impacto do uso de uma equação específica da população para a taxa metabólica basal (TMB), em amostra probabilística de adultos do Município de Niterói, Rio de Janeiro, Brasil. Uma amostra de 1.726 indivíduos da população adulta participou do estudo. Ingestão energética foi avaliada por um recordatório de 24 horas e IE/TMB foi calculada com TMB estimada pelas equações recomendadas e pelas equações específicas para a população. A média da IE foi 1.570,9 e 2.188,8kcal.dia-1 em mulheres e homens, respectivamente. A ingestão energética diminuiu com o aumento da idade em homens e mulheres. A taxa metabólica basal estimada pela equação brasileira foi significativamente menor do que os valores estimados pela equação recomendada para todas as idades, sexo e estado nutricional. Em geral, a subestimativa da IE foi encontrada em pelo menos 50% da população, maior em mulheres, e aumentou com o avanço da idade e índice de massa corporal (IMC). Os resultados confirmam que IE é subestimada, mesmo quando a TMB é estimada pelas equações da população específica.

El objetivo del presente estudio fue identificar la subestimación de la ingesta energética (IE) y estimar el impacto del uso de una ecuación específica de la población para la tasa metabólica basal (TMB), en una muestra probabilística de adultos del municipio de Niterói, Río de Janeiro, Brasil. Una muestra de 1.726 individuos de la población adulta participó en el estudio. La ingesta energética fue evaluada mediante un recordatorio de 24 horas y las IE/TMB fueron calculadas con una TMB estimada por las ecuaciones recomendadas y por las ecuaciones específicas para la población. La media de la IE fue 1.570,9 y 2.188,8kcal.día-1 en mujeres y hombres, respectivamente. La ingesta energética disminuyó con el aumento de la edad en hombres y mujeres. La tasa metabólica basal estimada por la ecuación brasileña fue significativamente menor que los valores estimados por la ecuación recomendada para todas las edades, sexo y estado nutricional. En general, la subestimación de la IE se encontró en por lo menos un 50% de la población, fue mayor en mujeres y aumentó con el aumento de la edad e índice de masa corporal (IMC). Los resultados confirman que la IE está subestimada, incluso cuando la TMB está estimada por las ecuaciones de población específica.

A Case of 2-Month-Old Infant with Persistent Hyperinsulinemic Hypoglycemia Presenting as Atonic Seizure

Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. It is caused by an inappropriate insulin secretion from the pancreatic beta-cells secondary to various genetic disorders. Recognition of this entity becomes important due to the fact that hypoglycemia is very severe and frequent and that it may lead to severe neurological damage in the infant manifesting as mental or psychomotor retardation or even a life-threatening events if not recognized and treated effectively in time. Hypoglycemias can be detected by seizures, fainting, or any other neurological symptoms in the neonatal period or later, usually within the first two years of life. Hypoglycemias must be rapidly and intensively treated to prevent severe and irreversible brain damages. Next, a treatment to prevent the recurrence of hypoglycemia must be set, which may include frequent and glucose-enriched feeding, diazoxide and octreotide. We report a case of congenital hyperinsulinemia in a 2 months old infant presenting as atonic seizure which has been treated with diazoxide.

Congenital hyperinsulinism: current status and future perspectives

The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable progress over the past 20 years and, currently, it is relatively rare to see patients who are left with severe psychomotor delay. The improvement was made possible by the recent developments in the understanding of the molecular and pathological basis of CHI. Known etiologies include inactivating mutations of the K(ATP) channel genes (ABCC8 and KCNJ11) and HNF4A, HNF1A, HADH, and UCP2 or activating mutations of GLUD1, GCK, and SLC16A1. The understanding of the focal form of K(ATP) channel CHI and its detection by 18F-fluoro-L-DOPA positron emission tomography have revolutionized the management of CHI, and many patients can be cured without postoperative diabetes mellitus. The incidence of the focal form appears to be higher in Asian countries; therefore, the establishment of treatment systems is even more important in this population. In addition to diazoxide or long-term subcutaneous infusion of octreotide or glucagon, long-acting octreotide or lanreotide have also been used successfully until spontaneous remission. Because of these medications, near-total pancreatectomy is less often performed even for the diazoxide-unresponsive diffuse form of CHI. Other promising medications include pasireotide, small-molecule correctors such as sulfonylurea or carbamazepine, GLP1 receptor antagonists, or mammalian target of rapamycin inhibitors. Unsolved questions in this field include the identification of the remaining genes responsible for CHI, the mechanisms leading to transient CHI, and the mechanisms responsible for the spontaneous remission of CHI. This article reviews recent developments and hypothesis regarding these questions.

Elucidation of the Inhibitory Effect of Phytochemicals with Kir6.2 Wild-Type and Mutant Models Associated in Type-1 Diabetes through Molecular Docking Approach

Among all serious diseases globally, diabetes (type 1 and type 2) still poses a major challenge to the world population. Several target proteins have been identified, and the etiology causing diabetes has been reasonably well studied. But, there is still a gap in deciding on the choice of a drug, especially when the target is mutated. Mutations in the KCNJ11 gene, encoding the kir6.2 channel, are reported to be associated with congenital hyperinsulinism, having a major impact in causing type 1 diabetes, and due to the lack of its 3D structure, an attempt has been made to predict the structure of kir6.2, applying fold recognition methods. The current work is intended to investigate the affinity of four phytochemicals namely, curcumin (Curcuma longa), genistein (Genista tinctoria), piperine (Piper nigrum), and pterostilbene (Vitis vinifera) in a normal as well as in a mutant kir6.2 model by adopting a molecular docking methodology. The phytochemicals were docked in both wild and mutated kir6.2 models in two rounds: blind docking followed by ATP-binding pocket-specific docking. From the binding pockets, the common interacting amino acid residues participating strongly within the binding pocket were identified and compared. From the study, we conclude that these phytochemicals have strong affinity in both the normal and mutant kir6.2 model. This work would be helpful for further study of the phytochemicals above for the treatment of type 1 diabetes by targeting the kir6.2 channel.

Hipoglicemia hiperinsulinêmica da infância: Análise de dados clínicos de uma amostra brasileira / Hyperinsulinemic hypoglycemia of the infancy: Analysis of clinical data from a Brazilian sample

OBJETIVO: Rever a apresentação dos casos de hipoglicemia hiperinsulinêmica da infância (HHI), tratamento e histologia nos serviços de endocrinologia pediátrica no Brasil. MATERIAIS E MÉTODO: Os serviços receberam protocolo para resgatar dados de nascimento, resultados laboratoriais, tipo de tratamento instituído, necessidade de pancreatectomia e histologia. RESULTADOS: Vinte e cinco casos de HHI de seis centros foram resgatados, 15 do sexo masculino, 3/25 nascidos de parto normal. A mediana de idade do diagnóstico foi 10,3 dias. As dosagens de glicose e insulina na amostra sérica crítica apresentaram mediana de 24,7 mg/dL e 26,3 UI/dL. A velocidade de infusão de glicose endovenosa foi superior a 10 mg/kg/min em todos os casos (M:19,1). Diazóxido foi utilizado em 15/25, octreotide em 10, corticoide em 8, hormônio de crescimento em 3, nifedipina em 2 e glucagon em 1. Quarenta por cento (10/25) foram pancreatectomizados, nos quais a análise histológica revelou a forma difusa da patologia. CONCLUSÃO: Primeira análise crítica de uma amostra brasileira de portadores de HHI congênita. Arq Bras Endocrinol Metab. 2012;56(9):666-71.

OBJECTIVE: To review the presentation of hyperinsulinemic hypoglycemia of the infancy (HHI), its treatment and histology in Brazilian pediatric endocrinology sections. MATERIALS AND METHOD: The protocol analyzed data of birth, laboratory results, treatment, surgery, and pancreas histology. RESULTS: Twenty-five cases of HHI from six centers were analyzed: 15 male, 3/25 born by vaginal delivery. The average age at diagnosis was 10.3 days. Glucose and insulin levels in the critical sample showed an average of 24.7 mg/dL and 26.3 UI/dL. Intravenous infusion of the glucose was greater than 10 mg/kg/min in all cases (M:19,1). Diazoxide was used in 15/25 of the cases, octreotide in 10, glucocorticoid in 8, growth hormone in 3, nifedipine in 2 and glucagon in 1. Ten of the cases underwent pancreatectomy and histology results showed the diffuse form of disease. CONCLUSION: This is the first critic review of a Brazilian sample with congenital HHI. Arq Bras Endocrinol Metab. 2012;56(9):666-71.

Complicações neonatais do diabetes mellitus gestacional ­ DMG / Neonatal complications of gestacional diabetes mellitus ­ GDM

O diabetes mellitus gestacional (DMG) está associado a um risco aumentado de complicações fetais, neonatais e no desenvolvimento a longo prazo. As taxas de aborto espontâneo, natimorto, mal formações congênitas e morbidade e mortalidade perinatal são maiores em filhos de mães diabéticas. As principais complicações neonatais são: macrossomia, hipoglicemia neonatal, deficiência de ferro, alterações da função cardiorrespiratória, hiperbilirrubinemia, anormalidades neurológicas, hipocalcemia, hipomagnesemia e policitemia. A macrossomia predispõe a lesões do parto, especialmente distócia de ombro, maior risco de lesão do plexo braquial, fraturas de clavícula ou do úmero, asfixia perinatal, e, menos frequentemente, hemorragia subdural e paralisia facial. O controle glicêmico rigoroso pré-concepção e durante a gestação associa-se com menor morbimortalidade perinatal. Assim, o controle do DMG representa tarefa de fundamental importância para impedir sequelas em neonatais. (AU)

The gestational diabetes mellitus (GDM) is associated with an increased risk of fetal, neonatal, and possibly long-term complications. The rates of spontaneous abortion, stillbirth, congenital malformations, and perinatal morbidity and mortality are higher in infants of a diabetic mother than in pregnancies with normal glycemic control. The main neonatal complications are: macrosomia, neonatal hypoglycemia, iron deficiency, changes in cardiac and respiratory function, hyperbilirubinemia, neurological abnormalities, hypocalcemia, hypomagnesemia and polycythemia. Macrosomia predisposes to birth injury, especially shoulder dystocia, increased risk of brachial plexus injury, clavicular or humeral fractures, perinatal asphyxia, and, less often, subdural hemorrhage and facial palsy. Strict glycemic control preconception and during pregnancy is associated with lower perinatal morbidity and mortality. Thus, GDM control is of paramount importance to prevent neonatal harm. (AU)

Hipoglicemia hiperinsulinêmica da infância / Hypoglycemia hypersinsulinemic of infancy

A hipoglicemia hiperinsulinêmica da infância (HHI) é uma emergência no período neonatal. Após curtos períodos de jejum, o cérebro ávido por glicose corre o risco de ficar sem seu principal substrato energético. Os critérios de diagnóstico de HH, tanto no período neonatal quanto na criança maior e na adolescência, foram revisados. Foram descritas as etiologias e a fisiopatologia da HHI. As alterações moleculares frequentemente encontradas, bem como a descrição das principais mutações, são abordadas.

The hypoglycemia hyperinsulinemic of the infancy (HHI) is an emergency in the neonatal period. After a short period of fast the avid brain runs out of its main energy substrate. The authors overhaul the diagnosis of HH, not only in the neonatal period, but also in the late infant and in the adolescence. The aspects of the molecular alterations found in these cases, as well like the description of the main mutations are also approached.

Hipoglicemia infantil / Hypoglycemia of infancy

Hypoglycemia of infancy is a common metabolic disorder that can have serious neurological consequences. Therefore, its early diagnosis and treatment are crucial prognostic factors. Hypoglycemia has a variety of causes and a good clinical history, physical examination and laboratory determination will orient the correct diagnosis. Occasionally a molecular study will be required.