Acidosis tubular renal distal en lactante debida a variante en el gen ATP6V0A4. Reporte de caso

Introducción: La acidosis tubular renal (ATR) incluye una clínica diversa que depende del sitio anatómico en el que se encuentre la alteración tubular, diferenciándose cuatro tipos de ATR. La acidosis tubular renal distal (ATRd) o Tipo I es una condición clínica poco frecuente (1:100.000 niños) que es debida a causas primarias o genéticas; en los niños con frecuencia se han encontrado alterados los genes ATP6V0A4 y ATP6V1B1 en forma homocigota, lo que causa una disfunción de la bomba ATPasa de H+ de las membranas apicales en el túbulo distal generando una inadecuada secreción de hidrogeniones traduciéndose en acidosis metabólica hiperclorémica persistente, con trastornos hidroelectrolíticos que pueden generar alteraciones en el metabolismo óseo, alteraciones renales, gastrointestinales y falla para crecer. Conclusión: El diagnóstico oportuno, seguimiento y tratamiento adecuados pueden evitar las complicaciones y permitir un adecuado crecimiento durante la infancia. (provisto por Infomedic International)

Introduction: Renal tubular acidosis (RTA) includes a diverse clinic that depends on the anatomical site where the tubular alteration is located, with four types of RTA being differentiated. Distal renal tubular acidosis (dRTA) or Type I is a rare clinical condition (1:100,000 children) that is due to the presence of a tubular disorder. It is due to primary or genetic causes; In children, the ATP6V0A4 and ATP6V1B1 genes have frequently been found to be homozygously altered, which causes dysfunction of the H+ ATPase pump of the apical membranes in the distal tubule generating an inadequate secretion of hydrogenions resulting in persistent hyperchloremic metabolic acidosis, with hydroelectrolytic disorders that can generate alterations in bone metabolism, renal and gastrointestinal alterations, and failure to grow. Conclusion: Timely diagnosis, adequate follow-up and treatment can avoid complications and allow adequate growth during childhood. (provided by Infomedic International)

Acidosis láctica en un paciente usuario de metformina / Metformin-associated lactic acidosis

Metformin is a hypoglycemic agent used as the first line for the treatment of non-insulin dependent Diabetes Mellitus. While it is a generally safe drug, it has an infrequent adverse reaction called lactic acidosis. We report a 49 year-old patient with non-insulin-requiring type 2diabetes who developed an acute kidney failure injury along with severe metabolic acidosis secondary to pneumonia during treatment.

La metformina es un agente hipoglucemiante que se ocupa de primera línea para el tratamiento de la Diabetes Mellitus no insulino dependiente. Si bien es un medicamento bien tolerado, tiene una reacción adversa bastante infrecuente que es la acidosis láctica. Reportamos el caso de una paciente de 49 años insulino no dependiente que desarrolló una injuria renal aguda junto con acidosis metabólica severa secundaria a una neumonía en tratamiento.

Interpretación de Gases Arteriales Sanguíneos: Revisión de tema / Interpretation of Arterial Blood Gases: Review

Los gases arteriales son herramientas fundamentales para evaluar objetivamente a pacientes con patologías agudas y crónicas, dado que proporcionan información sobre los índices de oxigenación, ventilación, equilibrio ácido-base y el suministro de oxígeno a nivel celular. Interpretarlos adecuadamente tiene gran importancia clínica, dado que influye en la toma de decisiones permite evaluar la respuesta a intervenciones terapéuticas. Este artículo tiene como objetivo presentar al lector los conceptos básicos de la fisiología del intercambio gaseoso, los trastornos ácido-base más comunes y una interpretación práctica de los gases arteriales. Se utiliza una combinación de ilustraciones gráficas, tablas y algoritmos para facilitar la comprensión y el abordaje clínico de pacientes con alteraciones respiratorias y metabólicas. Palabras clave: gasometría arterial; fisiología oxigenación; alcalosis; acidosis

Arterial blood gases are fundamental tools to objectively evaluate patients with acute and chronic pathologies. They provide information on rates of oxygenation, ventilation, acid-base balance,and oxygen supply at the cellular level. Interpreting them properly is of great clinical importance for making timely decisions and allows evaluating the response to therapeutic interventions. This article introduces to the reader to the basic concepts ofgas exchange physiology, the most common acid-base disorders, and a practical interpretation of arterial blood gases. A combination of graphic illustrations, tables, and algorithms is used to facilitate the understanding and clinical management of patients with respiratory and metabolic disorders. Key words:blood gas analysis; physiology oxygenation; alkalosis; acidosis

Intoxicación por metanol: análisis de una serie de casos en dos hospitales públicos / Methanol poisoning: Analysis of a case series in two public hospitals

RESUMEN Objetivo: describir las características clínicas y epidemiológicas de pacientes con intoxicación por metanol en dos hospitales públicos. Materiales y métodos: serie de casos retrospectiva, se evaluó 41 historias clínicas de pacientes que ingresaron a emergencia con diagnóstico de intoxicación por metanol, en el periodo 2018-2022, en dos hospitales públicos de Lima-Perú: Hospital Nacional Arzobispo Loayza y Hospital Hipólito Unanue. Resultados : de los 41 pacientes, 35 eran varones, con una media de edad de 44,4 años. Cerca del 50% ingresó a la Unidad de Cuidados Intensivos (UCI) y el 56,1% (23/41) requirió hemodiálisis. Todos los pacientes presentaron acidosis metabólica severa anión gap elevado. A las 48 h de ingreso 9/41(21,9%) pacientes fallecieron. De los sobrevivientes, 23/41(56,1%) presentaron secuelas: 21 con neuropatía óptica tóxica y 2 con secuela motora por accidente cerebrovascular hemorrágico. Se evidenció menor valor del nivel de pH (6,7 vs. 7,1, p < 0,001) y bicarbonato (3 mmol/L vs. 4,9 mmol/L, p= 0,004), así como mayor nivel de lactato (9,6 mmol/L vs 2,3 mmol/L, p<0,001) y sodio (142,5 mmol/L vs. 138 mmol/L, p < 0,036) en el grupo de fallecidos comparado con los vivos. Conclusión: La intoxicación por metanol continúa siendo una condición que deja secuelas y puede llevar a fallecimiento, su principal manifestación es la acidosis metabólica severa anión gap alto, asociada a síntomas respiratorios y neurológicos; el tratamiento se basa en la administración de etanol, bicarbonato y hemodiálisis.

ABSTRACT Objective: To describe the clinical and epidemiological characteristics of patients with methanol poisoning in two public hospitals. Materials and methods: Retrospective case series, 41 medical records of patients admitted to emergency with a diagnosis of methanol intoxication in the period 2018-2022 in two public hospitals in Lima-Peru were reviewed. Patients were from Arzobispo Loayza National Hospital and Hipolito Unanue Hospital. Results: Of the 41 patients, 35 were male, with a mean age of 44.4 years. Nearly 50% were admitted to the intensive care unit (ICU), and 23/41 (56,1%) required hemodialysis. All patients presented severe metabolic acidosis with elevated anion gap. Forty-eight hours after admission, 9/41 (21,9%) patients died. Of those who survived, 23/41 (56,1%) had sequelae: 21 patients developed toxic optic neuropathy and two patients had motor sequelae due to hemorrhagic stroke. Lower pH (6,7 vs. 7,1, p<0,001) and bicarbonate (3 mmol/L vs. 4,9 mmol/L, p= 0,004) levels, as well as higher lactate (9,6 mmol/L vs 2,3 mmol/L, p<0,001) and sodium (142,5 mmol/L vs. 138 mmol/L, p<0,036) values were evidenced in the deceased patients compared to those who survived. Conclusion: Methanol poisoning continues to be a condition that leaves sequelae and it may lead to death. Severe metabolic acidosis with an elevated anion gap, associated with respiratory and neurological symptoms are its main manifestations; therapy is based on the administration of ethanol, bicarbonate, and hemodialysis support.

The therapeutic effect of continuous blood purification on diabetic lactic acidosis / 中国糖尿病杂志

Objective To investigate the therapeutic effect of continuous blood purification on diabetic lactic acidosis(DLA).Methods 60 DLA patients who were treated at our hospital Blood Purification Center from January 2020 to January 2023 were randomly divided into conventional treatment group(Con)and continuous blood purification group(CBP),with 30 cases in each group.The changes of anion gap(AG),pH,lactic acid(Lac),FPG,2 hPG,HbA1c,alanine aminotransferase(ALT),aspartate aminotransferase(AST),total bilirubin(TBIL),serum creatinine(Scr),urea nitrogen(BUN),cystatin C(CysC),blood potassium(K+),C-reactive protein(C-RP),acute and chronic health evaluation scoring system Ⅱ(APACHEⅡ)and mortality within 28 days were compared between the two groups.Results After 48 h of treatment,the clearance rate of Lac in CBP group was higher than that in Con group(P<0.05).The pH value of CBP group was higher than Con group.The levels of AG,Lac,FPG,2 hPG,HbA1c,ALT,AST,TBIL,Scr,BUN,CysC,K+,C-RP and APACHEⅡ score were lower in CBP group than those in Con group(P<0.05).The 28-day mortality rate of the CBP group was lower than that of the Con group(P<0.05).Conclusion Continuous blood purification combined with routine treatment in DLA patients can increase Lac clearance and improve the prognosis.

The relationship between serum bicarbonate and cardiovascular events in peritoneal dialysis patients / 安徽医科大学学报

Objective To investigate the correlation between serum bicarbonate level and cardiovascular events in peritoneal dialysis(PD)patients.Methods The data of PD patients who underwent PD catheterization and were followed up regularly until March 31,2023 were retrospectively collected.The included patients were divided into low bicarbonate group and normal bicarbonate group according to the time-averaged serum bicarbonate level.The incidence of cardiovascular events(including coronary heart disease,heart failure,stroke,peripheral vascular dis-ease,death related to cardiovascular surgery or death due to aneurysm dissection or rupture,fatal pulmonary em-bolism,or death from other or unknown cardiovascular causes)was compared between the two groups and the risk factors for cardiovascular events were analyzed.Results At the end of follow-up,a total of 110 PD patients were included,and 34 patients had cardiovascular events.Compared with the normal bicarbonate group,the low bicar-bonate group had a higher incidence of cardiovascular events.Univariate Cox regression analysis showed that the risk of cardiovascular events in the low bicarbonate group was 4.197 times higher than that in the normal bicarbon-ate group(95％CI=2.115-8.331,P＜0.001).After adjusting for multiple confounding factors,the risk of car-diovascular events in the low bicarbonate group was 3.506 times higher than that in the normal bicarbonate group(95％CI=1.709-7.193,P=0.001).The results of multivariate competing risk model showed that the risk of cardiovascular events in the low bicarbonate group was 3.801 times higher than that in the normal bicarbonate group(95％CI=1.920-7.525,P＜0.001).Conclusion Low serum bicarbonate level is closely related to the oc-currence of cardiovascular events in patients with PD,and it is an independent risk factor for cardiovascular events in patients with PD.

Congenital intrabdominal hernia with atypical pain as first manifestation:A case report and literature review / 吉林大学学报(医学版)

Objective:To discuss the clinical characteristics,diagnosis processes,and treatment methods of one patient with congenital intrabdominal hernia,and to summarize the potential misconceptions during the diagnostic and treatment processes,and to improve the clinicians'awareness of this disease.Methods:The clinical data and auxiliary examination results of one patient with congenital intrabdominal hernia were collected and analyzed,and the related literatures were reviewed.Results:The patient,a 65-year-old male,sought care at the local hospital due to upper abdominal pain before 2 d;there were no significant abnormalities in the examination results at the cocal hospital;blood glucose>25 mmol·L-1.After receiving hypoglycemic,rehydration,and blood purification treatment,the condition of the patient was worsened,presenting with confusion,hypotension,and respiratory distress;the patient admitted in our hospital for further diagnosis and treatment.After admission,the patient was given despite fluid resuscitation,mechanical ventilation,and supportive treatment,but there was no improvement in the symptoms;interventional radiology was performed angiography of the abdominal artery and right femoral vein,which showed no significant vascular abnormalities in the abdomen.An abdominal paracentesis yielded a mixed bloody fluid,suggesting the concealed intraperitoneal disease;exploratory laparotomy was performed.During operation,the intrabdominal hernia with small intestine necrosis and septic shock were diagnosed,and partial small intestine resection,anastomosis,adhesiolysis,and abdominal irrigation and drainage were carried out.The patient had a good recovery and was discharged on the 14th day after operation.Conclusion:Congenital intrabdominal hernia is a very rare cause of intestinal obstruction in the adults,and high suspicion for intrabdominal hernia is one of the differential diagnosis for atypical acute abdomen;early multidisciplinary intervention can be lifesaving for the patients.

Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv) / Acidose tubular renal na amiloidose hereditária por transtirretina (ATTRv)

Abstract Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe autosomal dominant systemic disease. It affects the peripheral and autonomic nervous systems, heart, kidneys, and eyes. Amyloid deposition has been demonstrated in the glomerular and tubulointerstitial compartments of the kidney. Therefore, urinary acidification disorders such as renal tubular acidosis (RTA) may be early manifestations of renal involvement in this population. Objective: To evaluate the prevalence of RTA in individuals with ATTRv. Methods: We included symptomatic and asymptomatic individuals with TTR mutation, older than 18 years, GFR >45 mL/min/1.73m2, without systemic metabolic acidosis. Urinary acidification protocol was performed with furosemide and fludrocortisone after 12 h of water deprivation (water deprivation test - WDT) and measurements of urine ammonium ( UNH 4 +) and titratable acidity (UTA). Proximal RTA (pRTA) was diagnosed when FEHCO3>10%. Incomplete form distal RTA (dRTA) was diagnosed if UpH>5.3. Results: We selected 49 individuals with a mean age of 40 (35.5-56.5) years, 63% of which were female, 84% were Caucasian, and mean GFR was 85.5 ± 20.5 mL/min/1.73m2. 94% had the genetic variant Val50Met and 57% were symptomatic. The prevalence of pRTA was 2% and of dRTA was 16.3%. In the subgroup with dRTA, there was no significant increase in excretion of UNH 4 + and UTA. We observed a good correlation between UpH by potentiometry and UpH dipstick. A UpH<5.5 on the dipstick had 100% sensitivity and negative predictive value to exclude dRTA. Conclusion: A high prevalence of RTA was found in individuals with TTR mutations. The UpH dipstick after WDT had good accuracy for screening for dRTA. Further studies are needed to evaluate the impact of early diagnosis and treatment of RTA in this population.

Resumo Introdução: A amiloidose hereditária por transtirretina (ATTRv) é uma doença sistêmica autossômica dominante grave. Afeta os sistemas nervoso periférico e autônomo, coração, rins e olhos. A deposição de amiloide foi demonstrada nos compartimentos glomerular e tubulointersticial do rim. Portanto, distúrbios de acidificação urinária, como acidose tubular renal (ATR), podem ser manifestações precoces de envolvimento renal nessa população. Objetivo: Avaliar a prevalência de ATR em indivíduos com ATTRv. Métodos: Incluímos indivíduos sintomáticos e assintomáticos com mutação na TTR, maiores de 18 anos, TFG >45 mL/min/1,73m2, sem acidose metabólica sistêmica. Realizou-se protocolo de acidificação urinária com furosemida e fludrocortisona após 12 horas de privação hídrica (teste de restrição hídrica - TRH) e medições de amônia urinária ( uNH 4 +) e acidez titulável (uTA) na urina. ATR proximal (ATRp) foi diagnosticada quando FEHCO3>10%. ATR distal (ATRd) de forma incompleta foi diagnosticada se pHu>5,3. Resultados: Selecionamos 49 indivíduos com idade média de 40 (35,5-56,5) anos, 63% mulheres, 84% caucasianos e TFG média de 85,5 ± 20,5 mL/min/1,73m2. 94% apresentaram a variante genética Val50Met; 57% eram sintomáticos. A prevalência de ATRp foi 2% e a de ATRd foi 16,3%. No subgrupo com ATRd, não houve aumento significativo na excreção de uNH 4 + e uTA. Observamos uma boa correlação entre pHU por potenciometria e pHU por fita reagente. Um pHU<5,5 na fita reagente apresentou 100% de sensibilidade e valor preditivo negativo para excluir a ATRd. ConclusÃO: Uma alta prevalência de ATR foi encontrada em indivíduos com mutações na TTR. O pHU por fita reagente após TRH teve boa precisão para triagem de ATRd. São necessários mais estudos para avaliar o impacto do diagnóstico e tratamento precoces da ATR nessa população.

Lactate and base excess (BE) as markers of hypoperfusion and mortality in traumatic hemorrhagic shock in patients undergoing Damage Control: a historical cohort / Lactato e excesso de base (BE) como marcadores de hipoperfusão e mortalidade no choque hemorrágico traumático em pacientes submetidos à estratégia de controle de danos - Uma coorte histórica

ABSTRACT Introduction: hemorrhagic shock is a significant cause of trauma-related deaths in Brazil and worldwide. This study aims to compare BE and lactate values at ICU admission and twenty-four hours after in identifying tissue hypoperfusion and mortality. Methods: examines a historical cohort of trauma patients over eitheen years old submittet to damage control resuscitation approch upon hospital admission and were then admitted to the ICU. We collected and analyzed ISS, mechanism and type of trauma, need for renal replacement therapy, massive transfusion. BE, lactate, pH, bicarbonate at ICU admission and twenty-four hours later, and mortality data. The patients were grouped based on their BE values (≥-6 and <-6mmol/L), which were previously identified in the literature as predictors of severity. They were subsequently redivided using the most accurate values found in this sample. In addition to performing multivariate binary logistic regression. The data were compared using several statistical tests due to diversity and according to the indication for each variable. Results: there were significant changes in perfusion upon admission to the Intensive Care Unit. BE is a statistically significant value for predicting mortality, as determined by using values from previous literature and from this study. Conclusion: the results demonstrate the importance of monitoring BE levels in the prediction of ICU mortality. BE proves to be a valuable bedside marker with quick results and wide availability.

RESUMO Introdução: o choque hemorrágico é a principal causa reversível de morte no trauma no Brasil e no mundo. Objetivo: comparar o valor de BE ao do lactato na admissão da UTI e vinte e quatro horas após o internamento na identificação de hipoperfusão tecidual e predição de mortalidade Método: coorte histórica de pacientes traumatizados, maiores de dezoito anos, submetidos à estratégia de controle de danos na admissão hospitalar, seguido de internamento em UTI. Foram coletados e analisados ISS, mecanismo e tipo de trauma, necessidade de terapia de substituição renal e transfusão maciça; BE, lactato, pH e bicarbonato coletados na admissão da UTI e vinte e quatro horas após, e a mortalidade. Os pacientes foram divididos em grupos conforme valores de BE (≥-6 e <-6mmol/L) já descritos na literatura como preditores de gravidade, e após redivididos de acordo com os valores de melhor acurácia encontrados nesta amostra, além de realização de regressão logística binária multivariada. Os dados foram comparados através de diversos testes estatísticos devido a diversidade e conforme a indicação para cada variável. Resultados: houve alterações perfusionais impactantes já na admissão da UTI. BE manteve-se com valor estatisticamente significativo para predição de mortalidade tanto quando utilizado os valores já conhecidos da literatura como quando aplicados os valores neste estudo identificados. Conclusão: valores de BE e de lactato foram capazes de predizer hipoperfusão tecidual e mortalidade nos dois momentos estudados, quando comparados, o BE tem boa performance como preditor de mortalidade, com rápido resultado e ampla disponibilidade.

Consensus of the Brazilian association of hematology, hemotherapy and cellular therapy on patient blood management: Anemia tolerance mechanisms

Abstract Understanding the physiological concepts of oxygen delivery is essential to discern the mechanisms that influence its increase, reduction or maintenance in the body. This text explores the different mechanisms that help maintain oxygen delivery even in the face of reduced hemoglobin levels. Adequate oxygen delivery ensures tissue and metabolic balance, which is crucial to avoid harmful consequences such as metabolic acidosis and cellular dysoxia. The complex interaction between variables such as cardiac output, hemoglobin and heart rate (HR) plays a fundamental role in maintaining oxygen delivery, allowing the body to temporarily adjust to situations of anemia or high metabolic demand. It is important to emphasize that blood transfusions should not be based on fixed values, but rather on individual metabolic needs. Strategies to reduce myocardial consumption and monitor macro and micro hemodynamics help in making rational decisions. Individualizing treatment and considering factors such as blood viscosity in relation to the benefits of transfusion are increasingly relevant to optimize therapy and minimize risks, especially in complex clinical scenarios, such as neurocritical patients and trauma victims.

Intoxicación por cianuro posterior a infusión prolongada de Nitroprusiato de sodio: a propósito de un caso / Cyanide poisoning following prolonged infusion of Sodium Nitroprusside: A case report / Intoxicação por cianeto após infusão prolongada de nitroprussiato de sódio: a propósito de um caso

El nitroprusiato de sodio fue aprobado desde 1974 como medicamento para las crisis hipertensivas. Desde entonces existe controversia sobre el potencial tóxico del mismo. La toxicidad por cianuro es una complicación poco común del nitroprusiato de sodio, que puede ser difícil de diagnosticar en pacientes críticamente enfermos. Dentro de los factores de riesgo está la utilización de infusiones prolongadas y dosis altas, por lo que se sugiere que la dosis no exceda 2 µg/kg/min. A continuación, se reporta el caso de un paciente de 49 años que ingresa a un servicio de urgencias después de un síndrome cerebrovascular y una emergencia hipertensiva que requirió infusión de nitroprusiato de sodio, seguida de signos y síntomas, los cuales sugirieron toxicidad. Entre dichos síntomas predominaban los cambios neurológicos, por lo cual fue manejado con hiposulfito de sodio y hubo una buena respuesta. El objetivo de este reporte de caso es sensibilizar al personal de salud sobre la necesidad de un uso adecuado del nitroprusiato y sobre la importancia de sospechar toxicidad en paciente con factores de riesgo.

Sodium Nitroprusside has been approved since 1974 as a medication for hypertensive crises. However, there has been ongoing controversy regarding its potential toxicity. Cyanide toxicity is a rare complication of Sodium Nitroprusside, which can be challenging to diagnose in critically ill patients. Risk factors include prolonged infusions and high doses; hence it is suggested that the dose should not exceed 2 µg/kg/min. Here, we present the case of a 49-year-old patient who entered the emergency department after a cerebrovascular event and a hypertensive emergency that required Sodium Nitroprusside infusion, followed by signs and symptoms suggestive of toxicity. Neurological changes were predominant among these symptoms, and the patient was managed with sodium thiosulfate, resulting in a good response. The objective of this case report is to raise awareness among healthcare professionals about the need for appropriate use of Sodium Nitroprusside and the importance of suspecting toxicity in patients with risk factors.

O nitroprussiato de sódio foi aprovado desde 1974 como medicamento para crises hipertensivas. Desde então tem havido controvérsia sobre o seu potencial tóxico. A toxicidade por cianeto é uma complicação rara do nitroprussiato de sódio, que pode ser difícil de diagnosticar em pacientes gravemente enfermos. Entre os fatores de risco está o uso de infusões prolongadas e altas doses, por isso sugere-se que a dose não ultrapasse 2 µg/kg/min. Relata-se a seguir o caso de uma paciente de 49 anos admitida em pronto-socorro após síndrome cerebrovascular e emergência hipertensiva com necessidade de infusão de nitroprussiato de sódio acompanhada de sinais e sintomas sugestivos de toxicidade. Dentre esses sintomas, predominaram as alterações neurológicas, para as quais foi tratado com hipossulfito de sódio e apresentou boa resposta. O objetivo deste relato de caso é sensibilizar os profissionais de saúde sobre a necessidade do uso adequado do nitroprussiato e sobre a importância de suspeitar de toxicidade em pacientes com fatores de risco.

Frequency of Acid-Base Derangements Among the Neonates Admitted to the Intensive Care Unit

Background: Every year deranged acid-base physiology drives admission to a critical care arena for a vast number of neonates. The neonatal intensive care unit is a fundamental sector for the survival of high-risk newborns. The acid-base disorder must always be considered in the clinical setting. The clinician should, in most cases, be able to predict the type of acid-base imbalance before the blood gas is available. Arterial blood gases (ABG-s) are the gold standard for assessing the adequacy of oxygen delivery, ventilation, and pH. This study aimed to assess the frequency of acid-base derangements among neonates admitted to the intensive care unit. Material & Methods: This was an observational cohort study that was conducted in the Neonatal Intensive Care Unit (I.C.U.) of Dhaka Shishu Hospital, Dhaka, Bangladesh during the period from October 2009 to September 2010. In total 230 neonates admitted to the Neonatal Intensive Care Unit, after fulfilling the inclusion criteria were enrolled in this study as study subjects. For each baby, a detailed history was recorded in a questionnaire form (enclosed herewith) from the mother or other caregiver. It was filled up by the researcher himself containing history (including antenatal history), physical examinations and laboratory findings. Arterial blood gas analysis was done (in a clinical biochemistry laboratory using an automatic analyzer machine) for each neonate at admission and that report was recorded for this study. Results: Among the total study subjects, 127 newborn babies (55.2%) had acid-base imbalances. Mixed acidosis prevailed in the highest frequency (23.9%) Then metabolic acidosis cases were at 17.8% and respiratory acidosis was at 13.9%. Metabolic alkalosis and respiratory alkalosis were absent. Normal blood gas was observed in 44.3% of newborns. All the neonates with pH <7 were dead. After Chi-Square analysis (at df=1), we found a highly significant correlation between mortality outcome with pH <7.35, CO2 >45, HCO3 < 22 mol/l and Base deficit >-10. All modalities of acid-base imbalances were significantly associated with mortality. Conclusion: In this study, a significant number of neonates who were admitted to the intensive care unit, can develop acid-base derangement. Mixed acidosis was found in the highest frequency. Metabolic, respiratory and mixed acidosis all has a significant correlation with death in a NICU. Metabolic alkalosis and respiratory alkalosis were found absent at admission

Sjogren’s syndrome presenting as hypokalemic periodic paralysis, a rare manifestation: A case series

Sjogren’s syndrome is a chronic and slowly progressing autoimmune disease characterized by lyphocytic infiltration of exocrine glands resulting in Sicca syndrome (xerostomia and keratocunjuntivitis sicca). The disease can present alone or along with other autoimmune diseases leading to significant organ specific and systemic disease. Middle aged women (Female: Male: 9:1) are primarily affected. Extraglandular (systemic) manifestations are seen in one third of patients with Sjogren’s syndrome. Among the extraglandular manifestations, renal involvement is commonly seen. Renal involvement in the form of tubulointerstitial nephritis (TIN) is more common compared to glomerular involvement. Distal renal tubular acidosis (RTA) is more common manifestation of TIN presenting as mild hypokalemia, metabolic acidosis, and rarely with hypokalemic periodic paralysis. We report three cases of hypokalemic periodic paralysis with metabolic acidosis, two in respiratory paralysis, diagnosed as distal RTA. On further evaluation of distal RTA, the patient diagnosed to have Sjogren’s syndrome and managed accordingly. Our report shows that Sjogren’s syndrome is a rare but important cause of hypokaemic periodic paralysis due to RTA.

MALA: Acidosis láctica asociado al uso de metformina, una revisión a propósito de casos clínicos / MALA: Lactic acidosis associated with the use of metformin, review of clinical cases

La metformina es el fármaco preferido en el manejo inicial de la diabetes mellitus tipo 2 (DMT2). Aunque se recomienda su uso ampliamente, se debe tener precaución al prescribirla a poblaciones susceptibles a condiciones de riesgo de hipoperfusión sistémica, ya que puede provocar acumulación en el organismo y alteraciones metabólicas que desemboquen en acidosis láctica asociada a metformina, una complicación grave que a menudo es subdiagnosticada. Con el propósito de promover un mejor conocimiento sobre este tema, la presente revisión se centra en el análisis de la clínica, fisiopatología, diagnóstico y manejo de la acidosis láctica asociada a metformina, prestando especial atención al manejo mediante terapias de reemplazo renal. El análisis se basará en la experiencia de una serie de casos de acidosis láctica asociada a metformina atendidos en un centro clínico hospitalario en Chile.

Metformin is the preferred medication for the initial management of type 2 diabetes mellitus (T2DM). Although its use is widely recommended, caution should be exercised when prescribing it to populations susceptible to systemic hypoperfusion conditions, as it can lead to accumulation in the body and metabolic disturbances that may result in metformin-associated lactic acidosis. This severe complication is often underdiagnosed. To promote a better understanding of this topic, the present review focuses on the analysis of the clinical, pathophysiological, diagnostic, and management aspects of metformin-associated lactic acidosis, with particular attention to management through renal replacement therapies. The analysis will be based on the experience of a series of cases of metformin-associated lactic acidosis treated at a hospital clinical center in Chile.

Don’t pin it all on a stereotype

Hypercalcemia is one of the most frequently encountered problems in endocrinology OPD. Although the evaluation may not always be straightforward in all scenarios. Common factors affecting calcium levels such as dehydration, improper sample collection, and vitamin D supplementation may mask a serious underlying disorder. Here, we discuss a case of an elderly female who had symptoms of myelopathy and hypercalcemia whose etiology was initially attributed to excessive sup

ATAD3A gene variations in a family with Harel-Yoon syndrome / 浙江大学学报·医学版

An 11-day-old female neonate was admitted for cough with mouth foaming and feeding difficulties. The laboratory results indicated hyperlactatemia, elevated markers of myocardial injury and inflammation, and high levels of acylcarnitine octanoylcarnitine and decanoylcarnitine in tandem mass spectrometry. Ultrasonography and MRI suggested cardiac insufficiency and hypertrophic cardiomyopathy. Whole exome sequencing showed that both the proband and her elderly sister had a compound heterozygous variant of c.1492dup (p.T498Nfs*13) and c.1376T>C (p.F459S) in the ATAD3A gene, inherited from their father and mother, respectively. The diagnosis of Harel-Yoon syndrome was confirmed. The proband and her sister were born with clinical manifestations of metabolic acidosis, hyperlactatemia, feeding difficulties, elevated markers of myocardial injury as well as cardiac insufficiency, and both died in early infancy.

Application value of SONG-HD scale in evaluating fatigue level of patients undergoing hemodialysis and analysis of factors influencing fatigue / 中国基层医药

Objective:To investigate the application value of standardized outcomes in nephrology hemodialysis (SONG-HD) scale in evaluating the fatigue level of patients undergoing maintenance hemodialysis (MHD) patients and the factors that affect fatigue.Methods:A total of 201 patients undergoing regular MHD who received treatment in the Department of Nephrology, The First Affiliated Hospital of Xiamen University in April 2021 were included in April, 2021. The SONG-HD scale was used to evaluate patient's fatigue level. Fatigue was assessed using face-to-face interview questionnaire. Clinical and laboratory indicators were analyzed. Univariate logistic regression analysis and multivariate logistic regression analysis were performed to analyze the factors that affect fatigue of patients undergoing MHD.Results:Among the 201 MHD patients, 73.1% (147/201) had fatigue. The high-sensitivity C-reactive protein and parathyroid hormone levels in patients with fatigue were 0.91 (0.30, 3.63) mg/L and 216.00 (141.00, 347.00) ng/L, respectively, which were significantly higher than 0.40 (0.30, 2.01) mg/L and 153.00 (96.73, 308.50) ng/L in patients who had no fatigue ( Z = 2.12, 2.17, both P < 0.05). The pre-dialysis carbon dioxide binding capacity and blood albumin levels in patients who had fatigue were (21.03 ± 2.65) mmol/L and (36.76 ± 3.20) g/L, respectively, which were significantly lower than (22.68 ± 3.01) mmol/L and (38.61 ± 2.85) g/L in patients who had no fatigue ( t = 3.77, 3.73, both P < 0.05). Univariate logistic regression analysis showed that high-sensitivity C-reactive protein, pre-dialysis carbon dioxide binding capacity, serum albumin level, and parathyroid hormone level were related to the occurrence of fatigue in patients undergoing MHD ( Wald = 4.32, 12.39, 12.23, 4.66, all P < 0.05). Additionally, in a multivariate model adjusted for confounding factors, the independent risk factors for fatigue in patients undergoing MHD were relatively low pre-dialysis carbon dioxide binding capacity and serum albumin level ( Wald = 12.41, 11.67, both P < 0.05). Conclusion:The incidence of fatigue is high in patients undergoing MHD. The SONG-HD scale is convenient to use in assessing the fatigue level of patients undergoing MHD. After adjusting for confounding factors, fatigue in patients undergoing MHD is associated with reduced levels of pre-dialysis carbon dioxide binding capacity and serum albumin.

A case of glutathione synthetase deficiency due to compound heterozygous variant of glutathione synthase gene / 中华神经科杂志

The clinical data and gene variant characteristics of a patient with glutathione synthetase (GSS) deficiency were summarized. The child was born 15 min prematurely as a male infant with postnatal respiratory distress, metabolic acidosis, severe anemia, hemolysis, hyperbilirubinemia, and motor developmental backwardness. Blood and urine genetic metabolic screening showed a blood glutamate value of 1 343.1 μmol/L and a urine 5-oxoproline value of 1 873.7 nmol/mg creatinine. Cranial magnetic resonance imaging showed nonspecific subarachnoid widening. Whole-exon gene sequencing of the family line suggested that the GSS gene of the preexisting patient originated from paternal and maternal variants, respectively: c.632_633del (p.Gln211Argfs *8), and c.491G>A (p.Arg164Gln). Complex heterozygous variants of the GSS gene were the genetic etiology of the present case.

Fanconi syndrome secondary to primary biliary cholangitis: a case report / 中华肾脏病杂志

Primary biliary cirrhosis/cholangitis is an autoimmune disease. Renal tubular acidosis is a common form in PBC cases, but Fanconi syndrome is rarely reported. The paper reported a 66-year-old female patient with fatigue, renal insufficiency and elevated bile duct enzymes. The patient presented with type 2 proximal renal tubular acidosis and complete Fanconi syndrome. Laboratory examinations showed high-titer-positive anti-mitochondrial antibodies, elevated serum IgM, and type 3 cryoglobulinemia. Renal biopsy revealed interstitial nephritis, and electron micrographs showed abnormal mitochondria in proximal tubular epithelial cells. The patient's renal function ameliorated, and acid-base imbalance and electrolyte disturbances were corrected after high-dose glucocorticoid treatment.

Prenatal diagnosis of pyruvate dehydrogenase E1-α deficiency: a case report / 中华围产医学杂志

This article reported a case of pyruvate dehydrogenase E1-α deficiency suggested by abnormal brain development during prenatal ultrasound imaging. Prenatal ultrasound revealed a mild enlargement of bilateral cerebral ventricles and the possibility of intracranial hemorrhage in the fetus at 25 +1 weeks of gestation. MRI showed the fetus with absent corpus callosum, enlarged bilateral cerebral ventricles and paraventricular cysts. After genetic counseling and careful consideration, the couple opted for pregnancy termination. To clarify the cause of the disease, whole-exome sequencing was performed on the fetal skin to detect possible variants, and which revealed a frameshift mutation c.924_930dup(p.R311Gfs*5) in exon 10 of the PDHA1 gene. Sanger sequencing confirmed the mutation was a de novo pathogenic variant, indicating that the fetus was affected by pyruvate dehydrogenase E1-α deficiency.