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1.
Ann Biol Clin (Paris) ; 78(4): 417-424, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32753366

RESUMO

We present the case of a four-year-old girl, who was hospitalized in intensive care unit for a coma resulting from metabolic acidosis with increased anion gap. The patient was treated for short bowel syndrome, following necrotising enterocolitis, which occurred 51 days after birth. In our initial evaluation of the patient's metabolic acidosis, we were unable to identify the cause of the increased anion gap. Urinary organic acids chromatography identified a large peak of lactate (quantified at 15 mmol/mol of creatiniuria), as well as its metabolites. The discrepancy between normal blood lactate concentration assayed by enzymatic assay, and the large amount of lactate found by gas-chromatography/mass spectrometry (GC/MS) in urine highlights the limit of the stereospecificity of enzymatic assays. Indeed, most lactates assay use enzymatic assays that are specific for L-lactate, whereas organic acids chromatography, whose column is mostly achiral, can detect both stereoisomers, D- and L-lactate. Organic acids in urine analysis, in addition to the clinical context, suggested a diagnosis of D-lactic acidosis. Following a review of the physiopathology and treatment of short bowel syndrome, we will discuss the mechanism and diagnosis of the D-lactic acidosis in our patient. This case highlights the need to perform an organic acid profile in urine in the presence of any unexplained increased anion gap to determine its cause.


Assuntos
Equilíbrio Ácido-Base/fisiologia , Acidose Láctica/diagnóstico , Acidose/diagnóstico , Coma/diagnóstico , Síndrome do Intestino Curto/diagnóstico , Acidose/etiologia , Acidose/metabolismo , Acidose Láctica/etiologia , Acidose Láctica/metabolismo , Acidose Láctica/urina , Análise Química do Sangue/métodos , Pré-Escolar , Coma/sangue , Coma/etiologia , Coma/urina , Diagnóstico Diferencial , Feminino , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Ácido Láctico/sangue , Ácido Láctico/urina , Síndrome do Intestino Curto/complicações , Síndrome do Intestino Curto/metabolismo , Urinálise
2.
Medicine (Baltimore) ; 99(26): e20990, 2020 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-32590812

RESUMO

RATIONALE: Metformin-associated lactic acidosis (MALA) is rarely encountered, but has a high mortality rate, Conventional treatments include hemodialysis or continuous renal replacement therapy (CRRT); however, when the disease progresses to end-stage, cardiac function is significantly inhibited, circulation cannot be maintained, CRRT cannot be tolerated, V-A extracorporeal membrane oxygenation (ECMO) may be the last treatment. PATIENT CONCERNS: The study report a rare case of MALA in an elderly female patient at the age of 72 who was admitted to hospital because of nausea for 2 days, complicated with systemic fatigue. DIAGNOSIS: MALA was cofirmed because of patient have increased lactic acid levels, blood pH <7.2, and a history of oral metformin intake. INTERVENTIONS: Venoarterial ECMO (V-A ECMO) combined with CRRT was initiated when circulation was still not hold after intravenous fluids and 5% sodium bicarbonate were prescribed. OUTCOMES: V-A ECMO was then terminated after 48 hours when circulation was perserved, CRRT was discontinued when PH and lactic acid level were normal limited. etformin-associated lactic acidosis did not recur during 6 months follow-up. LESSONS: The incidence of MALA is low, but mortality is very high. Intermittent hemodialysis or CRRT should be performed if the lactic acid level is persistently elevated. When severe circulatory dysfunction occurs and cardiac function is inhibited, V-A ECMO support should be performed immediately to maintain circulation, followed by CRRT, which may be the final measure to treat refractory MALA.


Assuntos
Acidose Láctica/terapia , Oxigenação por Membrana Extracorpórea/métodos , Metformina/efeitos adversos , Terapia de Substituição Renal/métodos , Acidose Láctica/etiologia , Idoso , Eletrocardiografia/métodos , Feminino , Humanos , Hipoglicemiantes/efeitos adversos , Hipoglicemiantes/uso terapêutico , Metformina/uso terapêutico
3.
BMJ Case Rep ; 13(3)2020 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-32188616

RESUMO

Lactic acidosis (LA) is characterised by persistently increased blood lactate >5 mmol/L. Type A LA due to anaerobic glycolysis is frequently seen during management of haematological malignancies. A rare form of LA known as type B LA, which occurs as a result of metabolic dysregulation at cellular level has been described recently. This has been reported to be because of Warburg effect (WE) or aerobic glycolysis, which is seen in cancerous cells as they rely on aerobic glycolysis rather than oxidative phosphorylation for energy generation. Presence of type B LA at initial presentation of haematological malignancies is a poor prognosticating factor and has rarely been reported in children. We present a child with T cell acute lymphoblastic leukaemia with mild phenotype of type B LA due to WE. She responded dramatically to definitive chemotherapy and tolerated intensive phase of chemotherapy without any significant morbidity.


Assuntos
Acidose Láctica/etiologia , Leucemia-Linfoma Linfoblástico de Células T Precursoras/diagnóstico , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Diagnóstico Diferencial , Feminino , Humanos , Leucemia-Linfoma Linfoblástico de Células T Precursoras/sangue , Leucemia-Linfoma Linfoblástico de Células T Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células T Precursoras/tratamento farmacológico
4.
Am J Emerg Med ; 38(6): 1296.e1-1296.e3, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31956048

RESUMO

A 64-year-old woman presented with coma, seizure, and lactic acidosis after ingesting 80 yam bean seeds. This rotenone-containing seeds cause cellular asphyxia via blockage of the mitochondrial electron transport. Subsequent oxidative stress results in the formation of lipid peroxidation (LPO). Rotenone analysis via liquid chromatography mass spectrometry revealed the following: 31,590 ng/mL in cooked yam bean seed and 100 ng/mL in the blood. We attempted to use N-acetylcysteine to alleviate oxidative stress and documented the continuous decline in the plasma concentration of LPO.


Assuntos
Pachyrhizus/efeitos adversos , Rotenona/análise , Acidose Láctica/complicações , Acidose Láctica/etiologia , Coma/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Estresse Oxidativo/efeitos dos fármacos , Rotenona/efeitos adversos , Rotenona/sangue , Convulsões/etiologia
5.
Circulation ; 141(11): 877-886, 2020 03 17.
Artigo em Inglês | MEDLINE | ID: mdl-31896278

RESUMO

BACKGROUND: The likelihood of neurologically favorable survival declines with prolonged resuscitation. However, the ability of extracorporeal cardiopulmonary resuscitation (ECPR) to modulate this decline is unknown. Our aim was to examine the effects of resuscitation duration on survival and metabolic profile in patients who undergo ECPR for refractory ventricular fibrillation/ventricular tachycardia out-of-hospital cardiac arrest. METHODS: We retrospectively evaluated survival in 160 consecutive adults with refractory ventricular fibrillation/ventricular tachycardia out-of-hospital cardiac arrest treated with the University of Minnesota (UMN) ECPR protocol (transport with ongoing cardiopulmonary resuscitation [CPR] to the cardiac catheterization laboratory for ECPR) compared with 654 adults who had received standard CPR in the amiodarone arm of the ALPS trial (Amiodarone, Lidocaine, or Placebo Study). We evaluated the metabolic changes and rate of survival in relation to duration of CPR in UMN-ECPR patients. RESULTS: Neurologically favorable survival was significantly higher in UMN-ECPR patients versus ALPS patients (33% versus 23%; P=0.01) overall. The mean duration of CPR was also significantly longer for UMN-ECPR patients versus ALPS patients (60 minutes versus 35 minutes; P<0.001). Analysis of the effect of CPR duration on neurologically favorable survival demonstrated significantly higher neurologically favorable survival for UMN-ECPR patients compared with ALPS patients at each CPR duration interval <60 minutes; however, longer CPR duration was associated with a progressive decline in neurologically favorable survival in both groups. All UMN-ECPR patients with 20 to 29 minutes of CPR (8 of 8) survived with neurologically favorable status compared with 24% (24 of 102) of ALPS patients with the same duration of CPR. There were no neurologically favorable survivors in the ALPS cohort with CPR ≥40 minutes, whereas neurologically favorable survival was 25% (9 of 36) for UMN-ECPR patients with 50 to 59 minutes of CPR and 19% with ≥60 minutes of CPR. Relative risk of mortality or poor neurological function was significantly reduced in UMN-ECPR patients with CPR duration ≥60 minutes. Significant metabolic changes included decline in pH, increased lactic acid and arterial partial pressure of carbon dioxide, and thickened left ventricular wall with prolonged professional CPR. CONCLUSIONS: ECPR was associated with improved neurologically favorable survival at all CPR durations <60 minutes despite severe progressive metabolic derangement. However, CPR duration remains a critical determinate of survival.


Assuntos
Acidose Láctica/etiologia , Reanimação Cardiopulmonar/métodos , Oxigenação por Membrana Extracorpórea , Hipercapnia/etiologia , Hipóxia/etiologia , Parada Cardíaca Extra-Hospitalar/terapia , Suporte Vital Cardíaco Avançado , Amiodarona/uso terapêutico , Dano Encefálico Crônico/etiologia , Dano Encefálico Crônico/prevenção & controle , Reanimação Cardiopulmonar/efeitos adversos , Estudos de Coortes , Método Duplo-Cego , Cardioversão Elétrica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Multicêntricos como Assunto/estatística & dados numéricos , Parada Cardíaca Extra-Hospitalar/complicações , Parada Cardíaca Extra-Hospitalar/mortalidade , Ensaios Clínicos Controlados Aleatórios como Assunto/estatística & dados numéricos , Estudos Retrospectivos , Taxa de Sobrevida , Taquicardia Ventricular/complicações , Taquicardia Ventricular/terapia , Fatores de Tempo , Resultado do Tratamento , Fibrilação Ventricular/complicações , Fibrilação Ventricular/terapia
6.
Ann Emerg Med ; 75(2): 287-298, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31474479

RESUMO

The role of lactic acid and its conjugate base, lactate, has evolved during the past decade in the care of patients in the emergency department (ED). A recent national sepsis quality measure has led to increased use of serum lactate in the ED, but many causes for hyperlactatemia exist outside of sepsis. We provide a review of the biology of lactate production and metabolism, the many causes of hyperlactatemia, and evidence on its use as a marker in prognosis and resuscitation. Additionally, we review the evolving role of lactate in sepsis care. We provide recommendations to aid lactate interpretation in the ED and highlight areas for future research.


Assuntos
Hiperlactatemia/etiologia , Ácido Láctico/sangue , Acidose Láctica/etiologia , Serviço Hospitalar de Emergência , Humanos , Hiperlactatemia/induzido quimicamente , Ácido Láctico/metabolismo , Prognóstico , Sepse/sangue , Sepse/complicações , Deficiência de Tiamina/complicações , Ferimentos e Lesões/complicações
8.
BMC Neurol ; 19(1): 345, 2019 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-31884946

RESUMO

BACKGROUND: Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. So far only four different pathogenic mutations are known. The manifestation is mostly in neonatal age, in early infancy or early childhood. CASE PRESENTATION: The 64-years female patient had a long history of abdominal pain, and episode of an acute neuritis. Ten years later she was admitted into the neurological intensive-care-unit with acute abdominal pain, multiple generalized epileptic seizures, a vertical gaze palsy accompanied by extensive lactic acidosis in serum 26.0 mmol/l (reference: 0.55-2.2 mmol/l) and CSF 12.01 mmol/l (reference: 1.12-2.47 mmol/l). Due to repeated epileptic seizures and secondary complications a long-term sedation with a ventilation therapy over 20 days was administered. A diagnostic work-up revealed up to 400-times increased prolin-level in urine CSF and blood. Furthermore, a low vitamin-B6 serum value was found, consistent with a HPII causing secondary pyridoxine deficiency and seizures. The ALDH4A1 gene sequencing confirmed two previously unknown compound heterozygous variants (ALDH4A1 gene (NM_003748.3) Intron 1: c.62 + 1G > A - heterozygous and ALDH4A1 gene (NM_003748.3) Exon 5 c.349G > C, p.(Asp117His) - heterozygous). Under high-dose vitamin-B6 therapy no further seizures occurred. CONCLUSION: We describe two novel ALDH4A1-variants in an adult patient with hyperprolinemia type II causing secondary pyridoxine deficiency and seizures. Severe and potentially life-threatening course of this treatable disease emphasizes the importance of diagnostic vigilance and thorough laboratory work-up including gene analysis even in cases with atypical late manifestation.


Assuntos
1-Pirrolina-5-Carboxilato Desidrogenase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/genética , 1-Pirrolina-5-Carboxilato Desidrogenase/genética , Acidose Láctica/etiologia , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Feminino , Humanos , Mutação , Estado Epiléptico/etiologia
9.
BMJ Case Rep ; 12(11)2019 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-31712226

RESUMO

Blood ethanol concentration is measured using different techniques. Gas chromatography/mass spectrometry is used in forensic laboratories to measure whole blood ethanol levels while enzyme immunoassay is often used in hospitals to measure serum or plasma ethanol levels. Lactic acidosis can theoretically cause false elevation of blood ethanol levels measured through enzymatic assay because this method measures the reduction of nicotinamide adenine dinucleotide (NAD+) to nicotinamide adenine dinucleotide- hydrogen (NADH) via the action of a dehydrogenase. Here, we present a rare incidence of ethanol level elevation in a non-alcoholic adult male secondary to lactic acidosis from a rare form of large B-cell lymphoma with infiltration of the liver.


Assuntos
Acidose Láctica/etiologia , Etanol/metabolismo , Falência Hepática Aguda/etiologia , Linfoma de Células B/complicações , Acidose Láctica/sangue , Doença Aguda , Idoso , Humanos , Falência Hepática Aguda/sangue , Masculino , Invasividade Neoplásica
10.
J Emerg Med ; 57(5): e153-e156, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31591073

RESUMO

BACKGROUND: Metformin is commonly used for the treatment of type 2 diabetes mellitus. Renal insufficiency is one of the contraindications for its use. Inadvertent prescription in patients with renal insufficiency may lead to metformin-associated lactic acidosis (MALA), which is associated with a high risk of mortality. Consequently, the early recognition and management of MALA is essential. CASE REPORT: We present the case of a 68-year-old man who had reversible blindness resulting from severe lactic acidosis. On presentation, he was alert, oriented, and had no complaints except mild abdominal discomfort and blindness. He denied any history of trauma or drug abuse. The results of the laboratory studies showed severe metabolic acidosis with a high anion gap and increased levels of serum creatinine. There were no predisposing ocular or neurologic lesions that could have induced the blindness. Although the blood levels of methanol, ethanol, and metformin were not estimated, correction of acidosis and hemodialysis led to a complete recovery. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Rarely, transient blindness may occur in patients with fatal severe metabolic acidosis. Evaluation for the presence of metabolic acidosis and a detailed medical history are essential in the management of acute blindness in such patients.


Assuntos
Acidose Láctica/etiologia , Cegueira/etiologia , Metformina/efeitos adversos , Acidose Láctica/complicações , Acidose Láctica/fisiopatologia , Idoso , Cegueira/diagnóstico , Cegueira/fisiopatologia , Diabetes Mellitus Tipo 2/tratamento farmacológico , Humanos , Hipoglicemiantes/efeitos adversos , Hipoglicemiantes/uso terapêutico , Masculino , Metformina/uso terapêutico
11.
J Emerg Med ; 57(6): 866-870, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31606230

RESUMO

BACKGROUND: Immigrants crossing the Southern U.S. border are particularly susceptible to heat illness. We review 3 patients from a heat-related mass-casualty incident with variations in heat stroke presentation, course, and outcome. CASE REPORT: On July 23, 2017, emergency medical services responded to a trafficking-related mass-casualty incident in San Antonio, Texas, involving 39 migrants found inside an abandoned tractor trailer without air conditioning who had been trafficked from Laredo, Texas. Three victims exhibiting heat stroke symptoms were taken to the ED of a large academic teaching hospital. Patient 1 was a 42-year-old man who presented with seizing, vomiting, and a core temperature of 38.8°C (101.8°F). His 54-day hospital course was notable for 2 cardiac arrests, disseminated intravascular coagulation, prolonged lactic acidosis, and residual kidney disease. Patient 2 was a 32-year-old man who presented to the emergency department intubated in the field with a core temperature of 40.7°C (105.3°F). His 60-day hospital course was notable for disseminated intravascular coagulation, severely elevated troponin, prolonged lactic acidosis, and stroke. Patient 3 was a 20-year-old man who presented with seizing and decorticate posturing, with a core temperature of 40.5°C (104.9°F). His 6-day hospital course was notable for rapid clinical improvement and full recovery. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians will encounter heat stroke victims. Our patients were exposed to an identical environment, and while each patient was otherwise healthy and differed significantly only in age, they exhibited a diversity of heat stroke presentations and sequelae. Treatment prioritizes cooling, but rapid deterioration requires intensive treatment of multiorgan failure.


Assuntos
Golpe de Calor/complicações , Incidentes com Feridos em Massa/estatística & dados numéricos , Acidose Láctica/epidemiologia , Acidose Láctica/etiologia , Adulto , Coagulação Intravascular Disseminada/epidemiologia , Coagulação Intravascular Disseminada/etiologia , Emigrantes e Imigrantes/estatística & dados numéricos , Golpe de Calor/epidemiologia , Golpe de Calor/fisiopatologia , Humanos , Masculino , Convulsões/epidemiologia , Convulsões/etiologia , Texas/epidemiologia
12.
BMJ Case Rep ; 12(10)2019 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-31653622

RESUMO

An elderly man in the seventh decade of life was brought to the hospital with worsening mental status. Blood tests revealed anaemia and thrombocytopenia with elevated lactate dehydrogenase and serum lactate levels. CT scan showed bulky thoracic and abdominal lymphadenopathy with splenomegaly. A positron emission tomography scan confirmed the above and in addition, revealed bilateral adrenal involvement. Bone marrow biopsy revealed non-germinal centre B-cell-like (non-GCB)-diffuse large B-cell lymphoma (DLBCL). Prompt treatment with dose-adjusted etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin and rituximab with intrathecal methotrexate chemotherapy resulted in a dramatic improvement in the patient's condition. This vignette serves as a reminder to include aggressive lymphomas like DLBCL in the differential diagnoses of patients presenting with metabolic encephalopathy and lactic acidosis. Our patient was moribund at presentation with poor sensorium and failure to thrive. The dilemma was whether to take an aggressive stand and start chemotherapy urgently or whether to stabilise the patient first and then consider the treatment of DLBCL. We make a case for initiating therapy promptly in such patients irrespective of their performance status.


Assuntos
Acidose Láctica/etiologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Encefalopatias Metabólicas/etiologia , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Idoso , Diagnóstico Diferencial , Humanos , Masculino
14.
Turk J Pediatr ; 61(1): 134-138, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31559736

RESUMO

Sag E, Kamasak T, Kaya G, Çakir M. A rare clinical association: Barth syndrome and cystic fibrosis. Turk J Pediatr 2019; 61: 134-138. Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II. Cystic fibrosis is a common autosomal recessive genetic disorder in Caucasians. Herein, we reported a rare clinical association in an infant diagnosed based on clinical and genetic analysis. A six-month old boy admitted with chronic steatorrhea. The diagnosis of cystic fibrosis was made after clinical and laboratory examinations. Fifteen days later, the patient was presented with restlessness and moaning. He had hypoglycemia and lactic acidosis. The patient died three hours after the admission. Pedigree analysis revealed similar sudden infant deaths in close relatives. Postmortem genetic analysis revealed the diagnosis of Barth syndrome. This is the first case of the association of Barth syndrome with cystic fibrosis. Our case reinforces the importance of pedigree analysis and postmortem examinations.


Assuntos
Síndrome de Barth/diagnóstico , Síndrome de Barth/genética , Fibrose Cística/diagnóstico , Mutação , Fatores de Transcrição/genética , Acidose Láctica/etiologia , Evolução Fatal , Humanos , Hipoglicemia/etiologia , Lactente , Masculino , Linhagem , Esteatorreia/etiologia
15.
BMJ Case Rep ; 12(7)2019 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-31308188

RESUMO

A term girl infant delivered following foetal distress presented with early respiratory distress syndrome and lactic acidaemia. She subsequently underwent detailed investigation for primary lactic acidaemia and was identified as homozygous for the c.515A>G,p.(Tyr172Cys) missense variant in the LRPPRC gene. Variants in this gene are known to cause French-Canadian type Leigh syndrome. Both parents were confirmed to be heterozygous for this mutation. This is the first case report of mitochondrial respiratory chain complex IV deficiency presenting as foetal distress and neonatal respiratory distress syndrome.


Assuntos
Deficiência de Citocromo-c Oxidase/complicações , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Acidose Láctica/etiologia , Consanguinidade , Deficiência de Citocromo-c Oxidase/genética , Evolução Fatal , Feminino , Homozigoto , Humanos , Recém-Nascido , Doença de Leigh/genética , Mutação/genética , Proteínas de Neoplasias/genética , Doenças Raras
16.
J Emerg Med ; 57(5): 720-722, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31248689

RESUMO

BACKGROUND: Metformin-associated lactic acidosis is a rare but serious complication of taking metformin. Making the diagnosis in the emergency department requires vigilance because the presentation can mimic other diseases. CASE REPORT: We present a case of a patient with diabetes who presented moribund with symptoms and signs consistent with mesenteric ischemia. This diagnosis was seemingly confirmed through computed tomography, and as a result the patient was brought to surgery for emergent exploratory laparotomy. Our patient made a remarkable recovery upon initiation of hemodialysis, demonstrating the need to initiate this life-saving procedure early. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Metformin levels are rarely available in the setting of the emergency department. Clinicians must remain alert, recognize that imaging studies may be misleading, and consider hemodialysis early in addition to surgical interventions.


Assuntos
Acidose Láctica/etiologia , Isquemia Mesentérica/etiologia , Metformina/efeitos adversos , Acidose Láctica/sangue , Creatinina/análise , Creatinina/sangue , Diabetes Mellitus Tipo 2/tratamento farmacológico , Serviço Hospitalar de Emergência/organização & administração , Feminino , Humanos , Hipoglicemiantes/efeitos adversos , Hipoglicemiantes/uso terapêutico , Ácido Láctico/análise , Ácido Láctico/sangue , Laparotomia/métodos , Isquemia Mesentérica/cirurgia , Metformina/uso terapêutico , Pessoa de Meia-Idade
17.
Rev Neurol (Paris) ; 175(9): 564-567, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31053354

RESUMO

Although relatively common in children, severe acute lactic acidosis is rare in adults with mitochondrial myopathies. We report here three cases, aged 27, 32 and 32 years, who developed life-threatening metabolic crisis with severe lactic acidosis, requiring hospitalisation in intensive care unit. Plasma lactates were elevated 10 to 15 fold normal values, necessitating extra-renal dialysis. By contrast CK levels were moderately increased (3 to 5N). No triggering factor was identified, but retrospectively all patients reported long-lasting mild muscle fatigability and weakness before their acute metabolic crisis. All of them recovered after prolonged intensive care but resting lactate levels remained elevated. Muscle biopsy showed ragged-red and COX-negative fibers in two patients and mild lipidosis in the third one. Heteroplasmic pathogenic point mutations were detected in MT-TL1 (m.3280G>A;m.3258C>T) and MT-TK (m.8363A>G). Life-threatening lactic acidosis may thus be a major inaugural clinical manifestation in adults with mitochondrial myopathies. Prolonged intensive care may lead to a dramatic and sustained improvement and is mandatory in such cases.


Assuntos
Acidose Láctica/etiologia , Acidose Láctica/terapia , Cuidados Críticos , Doenças Mitocondriais/complicações , Doenças Mitocondriais/terapia , Acidose Láctica/diagnóstico , Adulto , Estado Terminal/terapia , Emergências , Feminino , Humanos , Masculino , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/patologia , Estudos Retrospectivos
19.
Am J Emerg Med ; 37(12): 2205-2208, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-30967322

RESUMO

INTRODUCTION: The goals of this study are to describe clinical characteristics and risk factors for metabolic acidosis with hyperlactatemia in emergency department (ED) patients with acute metformin overdose. METHODS: This was a secondary analysis of data from a retrospective observational cohort of adult ED patients presenting with acute drug overdose at two tertiary care hospitals over 5 years. The primary outcomes were: (1) hyperlactatemia, defined as a lactate concentration ≥ 2 mmol/L at any point during hospital admission and, (2) metformin associated lactic acidosis (MALA), defined as a lactate concentration ≥ 5 mmol/L and pH <7.35 at any point during hospital admission. RESULTS: We screened 3739 acute overdoses; 2872 met eligibility, 56 self-reported metformin overdose (57% female, mean age 55.8). Of these, 39 had measured lactate values. There was a high incidence of hyperlactatemia (56.4%); MALA was less frequent (17.9%). There were no deaths. Low serum bicarbonate was an independent clinical risk factor for hyperlactatemia (adjusted p < 0.05). Acetaminophen co-exposure was an independent clinical risk factor for MALA (OR 24.40, 95% CI 1.6-376.4). CONCLUSIONS: In ED patients with acute metformin overdose, initial hyperlactatemia is common but MALA is unusual. Acetaminophen co-exposure is a novel independent risk factor for the occurrence of MALA that deserves further investigation.


Assuntos
Overdose de Drogas/epidemiologia , Hiperlactatemia/epidemiologia , Metformina/envenenamento , Acetaminofen/efeitos adversos , Acidose Láctica/sangue , Acidose Láctica/epidemiologia , Acidose Láctica/etiologia , Analgésicos não Entorpecentes/efeitos adversos , Estudos de Casos e Controles , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , Humanos , Hiperlactatemia/sangue , Hiperlactatemia/etiologia , Hipoglicemiantes/envenenamento , Ácido Láctico/sangue , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco
20.
J Inherit Metab Dis ; 42(3): 575-576, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30693531

RESUMO

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a type of mitochondrial disorder and stroke-like lesions are observed prominently in the brain magnetic resonance imaging. Those stroke-like lesions of MELAS patients are usually located in the posterior quadrants and do not correspond to typical vascular territories. This case illustrates that focal cerebellar infarction can be the sole initial sign of MELAS.


Assuntos
Acidose Láctica/etiologia , Encéfalo/patologia , Infarto Cerebral/etiologia , Síndrome MELAS/diagnóstico , Infarto Cerebral/diagnóstico por imagem , Pré-Escolar , Humanos , Síndrome MELAS/patologia , Imagem por Ressonância Magnética , Masculino
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