Primary adipsia and severe hypernatremia in a Pit Bull dog / Adipsia primária e hipernatremia severa em um cão Pit Bull

Primary adipsia is a rare condition in which there is failure in the activation threshold of the hypothalamic osmoreceptors, leading to osmolality imbalance. Here, we reported the case of a Pit Bull dog with an altered level of consciousness (started after weaning) and adipsia. There was an increase in plasma osmolality (444 mOsm/kg), sodium (223.7 mg/dL), and chlorine (173 mg/dL) levels. Based on the suspicion of primary adipsia, water was administered via a nasogastric tube, with clinical improvement. The owner was instructed to supply water with food. Eight months after discharge, the dog returned with parvovirus and died. In the anatomopathological examination, no structural changes were observed in the central nervous system. To our knowledge, this is the first report of hypernatremia due to adipsia in a Pit Bull dog, showing that this is a differential diagnosis that should be considered in this breed.

Adipsia primária é uma rara condição em que há falha no limiar de ativação dos osmoreceptores hipotalâmicos, levando ao desequilíbrio da osmolalidade. Este artigo tem como objetivo relatar o caso de um cão da raça Pit Bull apresentando alteração no nível de consciência (iniciado após o desmame) e adipsia. Foi verificado aumento da osmolalidade plasmática (444 mOsm/kg), sódio (223,7 mg/dL) e cloro (173 mg/dL). Baseado na suspeita de adipsia primária, iniciou-se administração de água via sonda nasogástrica, com melhora clínica. O tutor foi orientado a fornecer água junto a alimentação. Oito meses após alta, o paciente retornou com parvovirose e veio a óbito. No exame anatomopatológico, não foram observadas alterações estruturais no sistema nervoso central. Este é o primeiro relato de hipernatremia por adipsia em um cão Pit Bull, mostrando que este é um diagnóstico diferencial que deve ser considerado nesta raça.

COVID-19: hypernatremia is a significant predictor of mortality

Introduction: Coronavirus disease 2019 (COVID-19) pandemic spread rapidly, creating a worrisome scenario worldwide. In hospitalized patients, dysnatremia (hyponatremia and/or hypernatremia) is the most common electrolyte disturbance, reported in 30­40% of cases and associated with a poor prognosis. This study aimed to evaluate the association between dysnatremia and mortality in hospitalized patients infected with SARS-COV-2. Methods: Retrospective longitudinal study that analyzed data from hospital records of 1,000 patients with COVID-19 (median age, 62.5 years; 57.1% men), including 109 (10.9%) deaths. Kaplan-Meier survival curves and Cox proportional hazard models with Hazard Ratio (HR) with 95% confidence intervals (95%CI) were applied to confirm the association between dysnatremia (hyponatremia and/or hypernatremia) and death. Results: Hypernatremia was detected in 83 (76.1%) of the patients who died, with a cumulative reduction in survival (p < 0.01) and a 2.42-fold increased mortality risk (95%CI: 1.45­2.91). In the multivariable analysis, hypernatremia was the main factor associated with increased mortality (HR: 1.50; 95%CI: 1.23­1.81). Long length of stay (LOS) (HR: 1.54; 95%CI: 1.21­1.78), old age (HR: 1.63; 95%CI: 1.28­1.88), and chronic kidney disease (HR: 1.77; 95%CI: 1.21­3.30) were also associated with death. Conclusion: Hypernatremia during hospitalization is an important risk factor for poor prognosis and an increased mortality risk. LOS, old age, and chronic kidney disease could also be used for risk stratification in patients with COVID-19.

Caracterización de recién nacidos a término con deshidratación hipernatrémica / Characterization of full term newborns with hypernatremic dehydration

INTRODUCCIÓN: La deshidratación hipernatrémica neonatal es una condición grave y su incidencia se ha incre mentado en los últimos años, repercutiendo en complicaciones que llevan a la hospitalización del recién nacido. OBJETIVO: Describir las características clínicas y de laboratorio de recién nacidos a término con diagnóstico de deshidratación hipernatremica. PACIENTES Y MÉTODO: Estudio observacional descriptivo de recién nacidos a término que se hospitalizaron por deshidratación hiperna trémica entre los años 2014 y 2016. Se incluyeron recién nacidos a término mayores de 37 semanas con signos clínicos de deshidratación (mucosas secas, fontanela deprimida, llanto sin lágrimas, signos de pliegue cutáneo) y/o pérdida excesiva de peso mayor de 7% y sodio sérico mayor a 145 mEq/L. Se registraron variables sociodemográficas y bioquímicas para su análisis. RESULTADOS: Se incluyeron 43 neonatos. El 60,5% de sus madres fueron primigestantes, el 90% de los neonatos recibieron lactancia materna exclusiva, las madres reportaron problemas en la lactancia materna en el 76,7%. La pérdida de peso al ingreso con respecto al peso de nacimiento fue de 15,3% en promedio. El 83,3% contaba con seguro de salud público. 65,1% presentó signos clínicos de deshidra tación al ingreso y 83,5% signos neurológicos transitorios. El promedio de sodio fue de 155 mEq/L al ingreso. El descenso de sodio en las primeras 24 horas de manejo fue 7,74 mEq/L (0,32mEq/L por hora). La corrección de la hipernatremia fue en el 55,8% por vía oral y la estancia hospitalaria de 4 días en promedio. CONCLUSIONES: Los problemas de alimentación se presentaron en un (76%) madres primigestantes en un (88,4%). El 90,6% de esta población administraban lactancia materna exclusiva, resultados que pueden contribuir para alertar al profesional de la salud a identificar de forma oportuna, signos de alarma y un control precoz posterior al alta del puerperio y a la toma de medidas preventivas.

INTRODUCTION: The hypernatremic neonatal dehydration is a severe condition whose incidence has increased in recent years resulting in complications leading to the hospitalization of the newborn. OBJECTIVE: Describe the clinical and laboratory characteristics of term-newborns with Hypernatremic Dehy dration diagnosis. PATIENTS AND METHOD: Descriptive observational study of hospitalized term- newborns due to hypernatremic dehydration between a period from 2014 to 2016. Term newborns over 37 weeks with clinical signs of dehydration (dry mucous membranes, depressed fontanel, tear less crying, signs of the cutaneous pleat), and/or excessive weight loss greater than 7% and serum sodium greater than 145 mEq/L were included. Sociodemographic and biochemical variables were recorded for analysis. RESULTS: 43 neonates were included. 60.5 percent of their mothers were pri- miparous, 90 percent of neonates received exclusive breastfeeding, mothers reported breastfeeding problems in 76.7 percent. Incoming neonates reported weight loss compared to birth weight at 15.3% on average. 83.3% had public health insurance. 65.1% had dehydration clinical signs at entry and 83.5% transient neurological signs. The average sodium was 155 mEq/L at revenue. The sodium decrease in the first 24 hours of handling was 7.74 mEq/L (0.32mEq/L per hour). The correction of the hypernatremia was 55.8% by oral intake and 4 days hospital stay on average. CONCLUSIONS: The feeding's problems came up in a (76%), primiparous mothers in an (88.4%). 90.6 percent of this population administered exclusive breastfeeding, results that can help to alert the health professional to timely identification, warning signs, and early post-discharge control and preventive measures.

Hipodermóclise para correção de desidratação hiperosmolar e distúrbios eletrolíticos graves: relato de caso / Hypodermoclysis for correction of hyperosmolar dehydration and severe electrolyte disturbances: a case report

O tratamento de desidratação e distúrbios eletrolíticos graves é contraindicado por meio de hipodermóclise, mas o nível de evidência da recomendação se baseia na opinião de especialistas. Descreve-se caso clínico de paciente com idade avançada, com indicação de cuidados paliativos, que evoluiu com desidratação hiperosmolar com hipernatremia grave, injúria renal aguda e hipercalemia. Tratou-se a paciente com solução hipotônica por meio da técnica de hipodermóclise, com resolução completa do quadro. Conclui-se que há necessidade de mais estudos sobre o uso da hipodermóclise para o tratamento de distúrbios hidroeletrolíticos graves.

The treatment of dehydration and severe electrolyte disturbances using hypodermoclysis is usually contraindicated, but the level of evidence for its recommendation is based on expert opinion. This case report describes an older patient receiving palliative care who developed hyperosmolar dehydration with severe hypernatremia, acute kidney injury, and hyperkalemia. She was treated with hypodermoclysis using a hypotonic solution, which led to complete resolution of the condition. In conclusion, further studies on the use of hypodermoclysis for the treatment of severe hydroelectrolytic disorders are needed.

Manejo de deshidratación con alteración del sodio en pacientes pediátricos / Management of dehydration with sodium alteration in pediatric patients

Los cuadros de deshidratación son frecuentes en pediatría, muchos de ellos acompañados de alteraciones electrolíticas. La deshidratación asociada a trastornos del sodio puede implicar riesgos para la salud de los pacientes pediátricos tanto en el desarrollo del cuadro como en su tratamiento. Objetivo: crear un algoritmo de manejo de los cuadros de deshidratación asociados a lateraciones del sodio para manejo de pacientes pediátricos. Métodos: se realizó revisión de la literatura disponible sobre deshidratación con hiper e hiponatremia, en inglés y español, incluyendo libros y artículos de revistas. Se presenta en el actual documento los aspectos básicos sobre la fisiopatología de la deshidratación asociada a trastornos del sodio, su clínica, diagnóstico y manejo detallado, para el uso en la práctica clínica diaria.

Dehydration is common in pediatric patients, frequently accompanied with electrolite disturbances. Dehydration associated with sodium disturbances can involve risk for pediatric patient health during the development of the disease and during its treatment. Objective: to create an algorithm of management of dehydration with sodium disturbances in pediatric patients. Methods: review of literature about dehydration with hypernatremia and hyponatremia, in english and spanish, including books and published articles. We present in this document the basic aspects of physiopathology of dehydration with sodium disturbances, clinical presentation, diagnosis and detailed management, so it can be consulted for clinical practice.

The role of urea-induced osmotic diuresis and hypernatremia in a critically ill patient: case report and literature review / O papel da diurese osmótica induzida por ureia na geração de hipernatremia no paciente crítico: relato de caso e revisão da literatura

Abstract Hypernatremia is a common electrolyte problem at the intensive care setting, with a prevalence that can reach up to 25%. It is associated with a longer hospital stay and is an independent risk factor for mortality. We report a case of hypernatremia of multifactorial origin in the intensive care setting, emphasizing the role of osmotic diuresis due to excessive urea generation, an underdiagnosed and a not well-known cause of hypernatremia. This scenario may occur in patients using high doses of corticosteroids, with gastrointestinal bleeding, under diets and hyperprotein supplements, and with hypercatabolism, especially during the recovery phase of renal injury. Through the present teaching case, we discuss a clinical approach to the diagnosis of urea-induced osmotic diuresis and hypernatremia, highlighting the utility of the electrolyte-free water clearance concept in understanding the development of hypernatremia.

Resumo A hipernatremia é um distúrbio eletrolítico comum no ambiente de terapia intensiva, com uma prevalência que pode chegar a 25%. Está associada a maior tempo de internação hospitalar e é um fator de risco independente para a mortalidade. Este relato ilustra um caso de hipernatremia de origem multifatorial no ambiente de terapia intensiva. Destacaremos o papel da diurese osmótica por geração excessiva de ureia, uma causa de hipernatremia pouco conhecida e subdiagnosticada. Este cenário pode estar presente em pacientes em uso de elevadas doses de corticoides, com sangramento gastrointestinal, em uso de dietas e suplementos hiperproteicos e estado de hipercatabolismo, especialmente durante a fase de recuperação de injúria renal. A seguir, discutiremos uma abordagem clínica para o diagnóstico da hipernatremia secundária à diurese osmótica induzida por ureia, destacando a importância do conceito de clearance de água livre de eletrólitos nesse contexto.

Possible association between dysnatremias and mortality during hospitalization in patients undergoing acute hemodialysis: analysis from a Peruvian retrospective cohort / Possível associação entre distúrbios do sódio e mortalidade hospitalar em pacientes submetidos a hemodiálise aguda: análise de uma coorte retrospectiva peruana

Abstract Objective: To evaluate the association between dysnatremias or dyschloremias and mortality during hospitalization in patients with acute kidney injury (AKI) or chronic kidney disease (CKD) undergoing acute hemodialysis. Methods: We carried out a retrospective cohort study on adult patients undergoing acute hemodialysis with AKI or CKD diagnosis at a public hospital in Lima, Peru. Dysnatremias were categorized as hyponatremia (Na < 135mmol/L) or hypernatremia (Na > 145mmol/L), and dyschloremias were defined as hypochloremia (Cl < 98 mmol/L) or hyperchloremia (Cl > 109mmol/L). The outcome of interest was mortality during hospitalization. We performed generalized lineal Poisson family models with bias-corrected and accelerated non-parametric bootstrap to estimate the risk ratios at crude (RR) and adjusted analysis (aRR) by gender, age, HCO3 (for all patients) and Liaño score (only for AKI) with CI95%. Results: We included 263 patients (mean age: 54.3 years, females: 43%): 191 with CKD and 72 with AKI. Mortality was higher in patients with AKI (59.7%) than in patients with CKD (14.1%). In overall, patients with hypernatremia had a higher mortality during hospitalization compared to those who had normal sodium values (aRR: 1.82, 95% CI: 1.17-2.83); patients with hyponatremia did not have different mortality (aRR: 0.19, 95% CI: 0.69-2.04). We also found that hyperchloremia (aRR: 1.35, 95% CI: 0.83-2.18) or hypochloremia (aRR: 0.66, 95% CI: 0.30-14.78) did not increase mortality in comparison to normal chloride values. No association between dysnatremias or dyschloremias and mortality during hospitalization was found in CKD and AKI subgroups. Conclusions: In our exploratory analysis, only hypernatremia was associated with mortality during hospitalization among patients with AKI or CKD undergoing acute hemodialysis.

Resumo Objetivo: Avaliar a associação entre distúrbios do sódio ou do cloro e mortalidade hospitalar de pacientes com insuficiência renal aguda (IRA) ou doença renal crônica (DRC) submetidos a hemodiálise aguda. Métodos: O presente estudo de coorte retrospectiva incluiu pacientes adultos submetidos a hemodiálise aguda com diagnóstico de IRA ou DRC em um hospital público de Lima, Peru. Os distúrbios do sódio foram classificados como hiponatremia (Na < 135mmol/L) ou hipernatremia (Na > 145mmol/L), enquanto os distúrbios do cloro foram classificados como hipocloremia (Cl < 98 mmol/L) ou hipercloremia (Cl > 109mmol/L). O desfecho de interesse foi mortalidade hospitalar. Utilizamos modelos de Poisson da família de modelos lineares generalizados com bootstrap não-paramétrico e correção de viés acelerado para estimar os riscos relativos na análise bruta (RR) e ajustada (RRa) para sexo, idade, HCO3 (para todos os pacientes) e escore de Liaño (apenas para IRA) com IC 95%. Resultados: Foram incluídos 263 pacientes (idade média 54,3 anos; 43% do sexo feminino), 191 com DRC e 72 com IRA. A mortalidade foi mais elevada nos pacientes com IRA (59,7%) do que nos indivíduos com DRC (14,1%). No geral, os pacientes com hipernatremia tiveram mortalidade hospitalar mais elevada do que os indivíduos com valores normais de sódio (RRa: 1,82; IC 95%: 1,17-2,83). Os pacientes com hiponatremia não apresentaram mortalidade diferente (RRa: 0,19; IC 95%: 0,69-2,04). Também identificamos que hipercloremia (RRa: 1,35; IC 95%: 0,83-2,18) e hipocloremia (RRa: 0,66; IC 95%: 0,30-14,78) não elevaram a mortalidade em comparação a indivíduos com níveis normais de cloro. Não foi encontrada associação entre distúrbios do sódio ou do cloro e mortalidade hospitalar nos subgrupos com DRC e IRA. Conclusões: Em nossa análise exploratória, apenas hipernatremia apresentou associação com mortalidade hospitalar em pacientes com IRA ou DRC submetidos a hemodiálise aguda.

Weight loss thresholds to detect early hypernatremia in newborns / Limites de perda de peso para detecção de hipernatremia precoce em recém-nascidos

ABSTRACT Objective: The literature indicates a single universal cut-off point for weight loss after birth for the risk of hypernatremia, without considering other factors. The aim of this study was to construct and internally validate cut-off points for the percentage weight loss associated with the risk of hypernatremia, taking into account risk factors. Methods: A prospective study with a three-day follow-up was conducted in 165 neonates with a gestational age ≥35 weeks. The main outcome variable was mild or moderate hypernatremia (serum sodium ≥ 145 mmol/L). Secondary variables (risk factors) were maternal and infant variables. A multivariate logistic regression model was constructed to predict hypernatremia, obtaining its probability and the optimal discriminant cut-off point for hypernatremia (receiver operating characteristic analysis). Based on this point, threshold weight loss values were obtained according to the other variables. These values were internally validated by bootstrapping. Results: There were 51 cases (30.9%) of hypernatremia. The mean percentage weight loss for hypernatremic infants was 8.6% and 6.0% for the rest. Associated variables in the multivariate model included greater weight loss, male gender, higher education level, multiparity, and cesarean delivery. The model had an area under the receiver operating characteristic curve of 0.84 (sensitivity = 77.6%; specificity = 73.2%). Similar values were obtained in the bootstrapping validation. The lowest percentage weight loss was 4.77%, for cesarean delivery in male infants of mothers with a higher education level. Conclusions: The weight loss percentage values depended on the type of delivery, parity, newborn gender, and level of maternal education. External studies are required to validate these values.

RESUMO Objetivo: A literatura indica um único ponto de corte universal na perda de peso após o nascimento para risco de hipernatremia, sem considerar outros fatores. Nosso objetivo foi criar e validar internamente pontos de corte para o percentual de perda de peso associado ao risco de hipernatremia considerando fatores de risco. Métodos: Foi feito um estudo prospectivo que incluiu 165 neonatos com idade gestacional ≥ 35 semanas, acompanhados por três dias. A principal variável de resultado foi hipernatremia leve ou moderada (sódio sérico ≥ 145 mmol/L). As variáveis secundárias (fatores de risco) foram variáveis maternas e dos neonatos. Um modelo multivariado de regressão logística foi criado para diagnosticar hipernatremia, obteve sua probabilidade e o ponto de corte discriminativo ideal para hipernatremia (análise da Característica de Operação do Receptor). Com base nesse ponto, obtivemos então os valores limites de perda de peso de acordo com as outras variáveis. Esses valores foram internamente validados por. Resultados: Há 51 casos (30,9%) de hipernatremia. O percentual de perda de peso para neonatos hipernatrêmicos foi 8,6% e 6,0% para o restante. As variáveis associadas no modelo multivariado incluíram maior perda de peso, sexo masculino, maior nível de escolaridade, multiparidade e cesárea. O modelo apresentou uma área sob a curva da Característica de Operação do Receptor de 0,84 (sensibilidade = 77,6%; especificidade = 73,2%). Valores semelhantes foram obtidos na validação da bootstrapping. O menor percentual de perda de peso foi 4,77% para cesárea em neonatos do sexo masculino de mães com maior nível de escolaridade. Conclusões: Os valores percentuais de perda de peso dependem do tipo de parto, paridade, sexo do recém-nascido e nível de escolaridade materna. São necessários estudos externos para validar esses valores.

A Case of Adipsic Hypernatremia in a Patient with Panhypopituitarism Treated with Growth Hormone Replacement

Adipsic hypernatremia is a rare disease where patients do not feel thirst even in the increased serum osmotic pressure and results in electrolyte imbalance, severely increased osmotic pressure and neurologic symptoms like nausea, vomiting, and seizures. We report a 12-year-old male patient who had underwent a trans-sphenoidal surgery for craniopharyngioma newly diagnosed with adipsic hypernatremia after having growth hormone replacement for growth hormone deficiency. The patient visited emergency room complaining of generalized weakness, tremor in both legs, and poor oral intake including water after starting growth hormone replacement therapy. Laboratory test revealed serum sodium 168 mmol/L and serum osmolality 329 mOsm/kg, despite the patient didn't feel any thirst at all. We treated him with scheduled water intake of 2.5 L a day with intranasal vasopressin. He admitted to Soonchunhyang University Gumi Hospital and Soonchunhyang University Seoul Hospital for 4 times during the following 8 months and serum sodium level and osmolality was controlled by scheduled water intake combined with intranasal vasopressin treatment. It is still unclear whether growth hormone replacement worked as a trigger of hypernatremia.

Organ and tissue donation: use of quality tool for process optimization / Donación de órganos y tejidos: utilización de herramienta de calidad para la optimización del processo / Doação de órgão e tecidos: utilização de ferramenta de qualidade para a otimização do processo

Abstract Objective: Identify by means of a management tool causes of losses of possible and potential organs and tissues donation as opportunities of improvements in the organs and tissues donation system. Method: Descriptive and quantitative study developed in three hospitals in the south of the country, which used an instrument of the National Transplant Organization of Spain to trace opportunities of improvements in the scenario of the organs and tissues donation. Tha data collect was carried out in patients´medical records from July and October 2017. The data were analyzed through the descriptive statistics. Results: Of the 321 deaths occurred, 73% were heart arrested and 27% were brain death. In all hospitals the percentage of brain death was higher than 25%. The causes of losses involve hemodynamic alterations 78.3% and medical contraindications 21,7%, with respect to hemodynamic instability 33% related to the hypotension, polyuria 28% , sodium more than 155mEq/l 22% and temperature below 35.5ºC in 17%. Conclusion and Implications for practice: The main causes of loss involve the hemodynamic instability and the contraindication, with respect to opportunities of improvements it was possible to measure the causes of the non-validation of the potential organs donor. The management tool used in the study allows the healthcare team to develop strategies directed towards actual problems incurred at the stages of the donation and transplantation process.

Resumen Objetivo: Identificar por medio de una herramienta de gestión causas de pérdidas de posibles y potenciales donantes de órganos y tejidos como oportunidades de mejorías en el sistema de donación de órganos y tejidos. Método: Estudio cuantitativo, descriptivo, desarrollado en tres hospitales en el sul del País, el cual utilizó un instrumento de la Organización Nacional de Trasplantes de España para rastrear oportunidades de mejorias en el escenario de la donación de órganos y tejidos. La recolección de datos fue realizada en historial clínico de pacientes entre julio y octubre de 2017. Los datos fueron analizados por medio de la estadística descriptiva. Resultados: De las 321 muertes ocurridas, 73% eran de corazón parado y 27% de muertes encefálica. En todos los hospitales el porcentaje de muertes encefálica fue superior a 25%. Las causas de las pérdidas incluyen alteraciones hemodinámicas 78,3% y contraindicaciones de carácter médico 21,7%, cuando la instabilidad hemodinámica 33% relacionadas con la hipotensión, poliuria 28% , sodio superior a 155mEq/l 22% y temperatura inferior a 35,5ºC en 17%. Conclusión y Implicaciones para la práctica: Las principales causas de la pérdida incluyen la instabilidad hemodinánica y la contraindicación, en el que se refiere a las oportunidades de mejorías ha podido ser medido la real, las principales causas de la no validación del potencial donante de órganos. La herramienta de gestión utilizada en el estudio permite a el equipo de salud desarrollar estrategias dirigidas a problemas reales ocasionados en las etapas del proceso de donación y trasplante.

Resumo Objetivo: Identificar por meio de uma ferramenta de gestão causas de perdas de possíveis e potenciais doadores de órgãos e tecidos como oportunidades de melhorias no sistema de doação de órgãos e tecidos. Método: Estudo quantitativo, descritivo, desenvolvido em três hospitais no Sul do País, o qual utilizou um instrumento da Organização Nacional de Transplantes da Espanha para rastrear oportunidades de melhorias no cenário da doação de órgãos e tecidos. A coleta de dados foi realizada em prontuários de pacientes entre julho e outubro de 2017. Os dados foram analisados por meio da estatística descritiva. Resultados: Das 321 mortes ocorridas, 73% eram de coração parado e 27% de morte encefálica. Em todos os hospitais a porcentagem de morte encefálica foi superior a 25%. As causas das perdas envolvem alterações hemodinâmicas 78,3% e contraindicações médicas 21,7%, quanto a instabilidade hemodinâmica 33% relacionadas a hipotensão, poliúria 28% , sódio superior a 155mEq/l 22% e temperatura inferior a 35,5ºC em 17%. Conclusão e Implicações para a prática: As principais causas de perda envolvem a instabilidade hemodinânica e a contraindicação, no que se refere as oportunidades de melhorias foi possível mensurar as principais causas da não validação do potencial doador de órgãos. A ferramenta de gestão utilizada no estudo permite a equipe de saúde desenvolver estratégias direcionadas a problemas reais ocasionados nas etapas do processo de doação e transplante.

Recém-nascido com deficiência de glicerol quinase: um caso clínico / Neonate with glycerol kinase deficiency: A clinical case

OBJETIVOS: Relatar o caso de um recém-nascido com deficiência de glicerol quinase, no qual foi identificada uma mutação isolada ainda não descrita no gene GK. DESCRIÇÃO DO CASO: Um recém-nascido com 10 dias de vida foi trazido ao serviço de urgência por recusa alimentar com 24 horas de evolução. Ao exame físico apresentava perda de 31% do peso de nascimento e sinais de desidratação. Os exames laboratoriais constataram presença de acidose metabólica com anion gap aumentado, creatinina 2,41mg/dL, ureia 306 mg/dL, hipernatremia (182mEq/L), hipercalemia (6,8mEq/L), hipercloremia (151mEq/L), transaminase glutâmico-oxalacética 879U/L, transaminase glutâmico-pirúvica 243U/L, triglicerídeos 725mg/dL. A cromotagrafia de ácidos orgânicos revelou hiperglicerolemia e glicerolúria compatíveis com deficiência de glicerol quinase. O estudo genético revelou uma mutação ainda não descrita: c.187T>C (p.S63P) em hemizigotia no gene GK. CONCLUSÕES: A causa mais frequente de desidratação hipernatrêmica no período neonatal é a hipogalatia materna. Nos casos mais graves de desidratação outras etiologias devem ser consideradas, incluindo causas metabólicas como a deficiência de glicerol quinase. Neste caso foi encontrada uma mutação no gene GK ainda não descrita.

AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified. CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal to feed with 24 hours of evolution. Physical examination showed a loss of 31% of birth weight and signs of dehydration. Laboratory tests revealed a metabolic acidosis with increased anion gap, creatinine 2.41mg/dL, urea 306mg/dL, hypernatremia (182mEq/L), hyperkalemia (6.8mEq/L), hyperchloremia (151mEq/L), glutamic-oxalacetic transaminase 879U/L, glutamic-pyruvic transaminase 243U/L, triglycerides 725mg/dL. Chromotagraphy of organic acids revealed hyperglycerolemia and glyceroluria compatible with glycerol kinase deficiency. The genetic study revealed a mutation not yet described: c.187T>C (p.S63P) as hemizygote status in the GK gene. CONCLUSIONS: The most frequent cause of hypernatremic dehydration in the neonatal period is maternal hypogalactia. In more severe cases of dehydration, other etiologies should be considered, including metabolic causes such as glycerol kinase deficiency. In this case a mutation not yet described in the GK gene was found.

Diabetes Insípida inducida por el embarazo o gestacional: a propósito de un caso / Pregnancy or Gestational Diabetes Insipidus: a purpose of a case

RESUMEN Antecedentes: La incidencia de la diabetes insípida gestacional es aproximadamente 1/30.000 gestaciones. Objetivo: A propósito de un caso de diabetes insípida gestacional ocurrida en nuestra unidad, se decide comunicar y revisar la literatura referente a opciones de manejo y tratamiento del mismo. Caso clínico: Mujer de 38 años, primigesta de 32 semanas con clínica de poliuria y polidipsia con una ingesta hídrica diaria de hasta 7 litros. Tras realizar las pertinentes exploraciones complementarias y descartar otras patologías más frecuentes, se establece el diagnóstico de diabetes insípida gestacional. Conclusiones: La diabetes insípida gestacional es una entidad muy poco frecuente que puede desencadenar en un estado de deshidratación intensa con hipernatremia y su consecuente afectación neurológica. Es importante el diagnóstico precoz para evitar las complicaciones tanto a nivel materno como fetal, así como realizar un manejo multidisciplinar de esta patología.

ABSTRACT Background: The incidence of diabetes insipidus during pregnancy is approximately 1 in 30,000 pregnancies. Objective: We herein report a case of a patient with gestational diabetes insipidus occurring in our unit. We decided to communicate the case and review the literature regarding management and treatment options. Case report: A 38-year-old woman at 32 week of pregnancy with polyuria, polydipsia, and daily water intake of up to 7 liters. After performing the complementary tests and ruling out other more frequent conditions, the diagnosis of gestational diabetes insipidus was established. Conclusion: Gestational diabetes insipidus is a very rare entity that can cause a state of intense dehydration with hypernatremia and its consequent neurological impairment. Early detection is important in order to avoid complications of both mother and fetus, as well as to carry out a multidisciplinary management of this condition.

The Different Expression Patterns of HSP22, a Late Embryogenesis Abundant-like Protein, in Hypertrophic H9C2 Cells Induced by NaCl and Angiotensin II

BACKGROUND: High-NaCl diet is a contributing factor for cardiac hypertrophy. The role of HSP22 as a protective protein during cardiac hypertrophy due to hypernatremia is unclear. Accordingly, this study aimed to establish a cellular hypernatremic H9C2 model and to compare the expression of HSP22 in Ca2+ homeostasis between a high-NaCl and angiotensin II-induced hypertrophic cellular H9C2 model. METHODS: Real-time PCR was performed to compare the mRNA expression. Flow cytometry and confocal microscopy were used to analyze the cells. RESULTS: The addition of 30 mM NaCl for 48 h was the most effective condition for the induction of hypertrophic H9C2 cells (termed the in vitro hypernatremic model). Cardiac cellular hypertrophy was induced with 30 mM NaCl and 1 µM angiotensin II for 48 h, without causing abnormal morphological changes or cytotoxicity of the culture conditions. HSP22 contains a similar domain to that found in the consensus sequences of the late embryogenesis abundant protein group 3 from Artemia. The expression of HSP22 gradually decreased in the in vitro hypernatremic model. In contrast to the in vitro hypernatremic model, HSP22 increased after exposure to angiotensin II for 48 h. Intracellular Ca2+ decreased in the angiotensin II model and further decreased in the in vitro hypernatremic model. Impaired intracellular Ca2+ homeostasis was more evident in the in vitro hypernatremic model. CONCLUSION: The results showed that NaCl significantly decreased HSP22. Decreased HSP22, due to the hypernatremic condition, affected the Ca2+ homeostasis in the H9C2 cells. Therefore, hypernatremia induces cellular hypertrophy via impaired Ca2+ homeostasis. The additional mechanisms of HSP22 need to be explored further.

Outcomes of Liver Transplantation Using Pediatric Deceased Donor Livers: A Single-Center Analysis of 102 Donors / 中华医学杂志(英文版)

<p><b>Background</b>The outcome of pediatric deceased donor liver transplantation (LT) has not been well studied, especially pediatric deceased donor livers used in adult transplantation. This study aimed to evaluate the efficacy of LT using pediatric deceased donor livers and compare the outcomes between pediatric-to-pediatric LT and pediatric-to-adult LT.</p><p><b>Methods</b>A retrospective review of LT using pediatric deceased donor livers from June 2013 to August 2016 was performed. The patients were divided into the pediatric-to-pediatric LT group and pediatric-to-adult LT group based on the ages of the recipients. The survival and incidence of early vascular complications (VCs) were observed between the two groups. We also analyzed the risk factors of early VCs in pediatric LT and the effect of donor hypernatremia on the prognosis of recipients.</p><p><b>Results</b>There were 102 cases of LT using pediatric deceased donor livers in our hospital from June 2013 to August 2016, 83 pediatric-to-pediatric LT (recipients' age ≤13 years) and 19 pediatric-to-adult LT (recipients' age ≥19 years). The ratio of early VC was similar in the two groups (19.3% vs. 10.6%, P = 0.514). Low body weight of recipient was an independent risk factor of early VC in pediatric LT (odds ratio: 0.856, 95% confidence interval: 0.752-0.975, P = 0.019). The 1-year cumulative survival rates of grafts and patients were 89.16% and 91.57% in pediatric-to-pediatric LT and 89.47% and 94.74% in pediatric-to-adult LT, respectively (all P > 0.05). In all cases, patients using donors with hypernatremia (serum sodium levels ≥150 mmol/L) had worse graft survival (χ=4.330, P = 0.037).</p><p><b>Conclusions</b>Pediatric-to-pediatric LT group has similar graft and patient survival rates with those of pediatric-to-adult LT group. Low body weight of recipients is an independent risk factor of early VC in pediatric LT. Patients using donors with hypernatremia have worse graft survival.</p>