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1.
Ann Biol Clin (Paris) ; 78(4): 425-432, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32618564

RESUMO

Wilson disease is a rare inherited disorder of copper metabolism that affects liver and brain due to copper tissue accumulation. The mechanism involved is based on mutations of the ATP7B gene. Children have predominant hepatic manifestations while adult are more often diagnosed by neurological and psychiatric symptoms. However, others features are tubulopathy, articular disorders and hemolytic anemia. We report the diagnostic of Wilson disease in a 14 years old girl and her sibling after investigation of hemolytic anemia, hepatic insufficiency, and hypophosphatemia.


Assuntos
Anemia Hemolítica/diagnóstico , Degeneração Hepatolenticular/diagnóstico , Doença Aguda , Adolescente , Anemia Hemolítica/complicações , Criança , Pré-Escolar , ATPases Transportadoras de Cobre/genética , Diagnóstico Diferencial , Família , Feminino , Hemólise/fisiologia , Insuficiência Hepática/complicações , Insuficiência Hepática/diagnóstico , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/genética , Humanos , Hipofosfatemia/complicações , Hipofosfatemia/diagnóstico , Masculino , Irmãos
4.
BMC Cardiovasc Disord ; 20(1): 104, 2020 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-32126966

RESUMO

BACKGROUND: Intractable, mechanical hemolytic anemia (IMHA) is a rare catastrophic complication following mitral valve surgery. We analyzed patient characteristics and IMHA management by reoperations after mitral valve surgery. METHODS: We collected medical records from mitral valve patients requiring reoperation due to IMHA. INCLUSION CRITERIA: hemoglobin < 100 g/L; positive hemolysis tests and echocardiography results; and exclusion of other hemolysis causes. RESULTS: Data from 25 IMHA cases included 10 (40%) early onset (1.3 (0.3,3.0) months) and 15 (60%) late onset (120 (24,204) months) cases. Early IMHA etiologies included surgical defects (6, 60%), uncontrolled infection (3, 30%) and Bechet's disease (1, 10%). Late IMHA etiologies included degeneration (13, 87%), new infection (1, 7%) and trauma (1, 7%). There were more mechanical valves (15, 88%) than bio-valves (2, 12%); the main valvular dysfunction was paravalvular leak (16, 64%). IMHA manifestations included jaundice (18, 72%), dark urine (21, 84%), heart failure (16, 64%), acute kidney injury (11, 44%), hepatomegaly (15, 60%), splenomegaly (15, 60%) and pancreatitis (1, 4%). Laboratory results showed decreased hemoglobin (70 ± 14 g/L) and increased bilirubin (72 ± 57 µmol/L), lactate dehydrogenase (2607 ± 2142 IU/L) and creatinine (136 ± 101 µmol/L) levels. Creatinine level negatively correlated with hemoglobin level (B = -3.33, S.E. B = 1.31, Exp(B) = 368.15, P = 0.018). Preoperative medications included iron supplements (20, 80%), erythropoietin (16, 64%) and beta-blocker (22, 88%). Two patients died of cardiac causes before reoperation. The other 23 underwent reoperation with long surgical times (aortic cross clamp 124 ± 50 min, cardiopulmonary bypass 182 ± 69 min) and blood transfusions (red blood cells 6 (6, 8) units, plasma 600 (400,800) ml, platelet 1(0,2) units). Postoperative complications included cardiac dysfunction (5, 22%), arrhythmia (10, 43%), sepsis (6, 26%), pulmonary infection (5, 22%), gastrointestinal bleeding (3, 13%), cerebral hemorrhage (2, 9%), chronic renal dysfunction (1, 4%) and surgical hemorrhage (1, 4%). Five (33%) patients died after reoperation from cardiac dysfunction (3, 60%), septic shock (1, 20%) and self-discharge (1, 20%). CONCLUSIONS: IMHA induces severe multi-organ dysfunction, contributing to high mortality. Perioperative management should focus on etiological treatment, organ protection, and blood management.


Assuntos
Anemia Hemolítica/etiologia , Doenças das Valvas Cardíacas/cirurgia , Implante de Prótese de Valva Cardíaca/efeitos adversos , Hemólise , Valva Mitral/cirurgia , Adulto , Idoso , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/mortalidade , Anemia Hemolítica/cirurgia , Pequim , Biomarcadores/sangue , Bioprótese , Feminino , Doenças das Valvas Cardíacas/diagnóstico por imagem , Doenças das Valvas Cardíacas/mortalidade , Próteses Valvulares Cardíacas , Implante de Prótese de Valva Cardíaca/instrumentação , Implante de Prótese de Valva Cardíaca/mortalidade , Hemoglobinas/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Reoperação , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
5.
Intern Med ; 59(1): 61-65, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31902909

RESUMO

We herein report a case with the rare combination of mucosa-associated lymphoid tissue lymphoma (MALT lymphoma) of the stomach, autoimmune gastritis (AIG), autoimmune thyroiditis, autoimmune hemolytic anemia (AIHA), and systemic lupus erythematosus. A 68-year-old woman was diagnosed with gastric MALT lymphoma associated with Helicobacter pylori (H. pylori) infection and AIG. Complete remission of the MALT lymphoma was achieved by H. pylori eradication and radiotherapy. Three years after the diagnosis of MALT lymphoma, the patient developed AIHA and anti-nuclear and anti-Smith autoantibody-positive lupus serositis, which were successfully managed with prednisolone administration.


Assuntos
Anemia Hemolítica/complicações , Gastrite/complicações , Lúpus Eritematoso Sistêmico/complicações , Linfoma de Zona Marginal Tipo Células B/complicações , Tireoidite/complicações , Anemia Hemolítica/diagnóstico , Doenças Autoimunes , Biópsia , Endoscopia Gastrointestinal , Feminino , Mucosa Gástrica/patologia , Gastrite/diagnóstico , Gastrite/imunologia , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Pessoa de Meia-Idade , Radiografia Torácica , Tireoidite/diagnóstico
6.
Fetal Pediatr Pathol ; 39(1): 38-44, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31198081

RESUMO

Introduction: Glutathione synthetase (GSS) deficiency is an autosomal recessive disorder (frequency < 1/1,000,000) with different varyingly severe clinical manifestations that include metabolic acidosis, hemolytic anemia, hyperbilirubinemia, neurological disorders and sepsis. Case report: This infant was small for gestational age, had hemolytic anemia, metabolic acidosis, bilateral subependymal pseudocysts and increased echogenicity of the basal ganglia. GSS deficiency was confirmed by genetic analysis. The patient also had unilateral right femur agenesis. Conclusion: By using next generation sequencing analysis, we identified a novel homozygous variant c.800G > A, p.Arg267Gln in the GSS gene of this patient. Femur agenesis had not previously been associated with GSS.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Anemia Hemolítica/genética , Glutationa Sintase/deficiência , Mutação/genética , Acidose , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Anemia Hemolítica/diagnóstico , Glutationa Sintase/genética , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido
7.
Neonatology ; 117(1): 127-130, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31751989

RESUMO

Maternal ingestion of naphthalene-containing mothballs is an uncommon cause of perinatal toxicity. Naphthalene toxicity is associated with methemoglobinemia, hypotension, hemolytic anemia, and hyperbilirubinemia, as well as other hepatic, renal, and respiratory complications. Naphthalene exposure is a common cause of toxicity in older children, but is rarely described in neonates. The neonatal cases described in the literature focus primarily on maternal inhalation as opposed to ingestion. We present a case of perinatal toxicity due to repeated maternal ingestion of naphthalene-containing mothballs during pregnancy. The patient presented with methemoglobinemia, hypotension, hemolytic anemia, and hyperbilirubinemia. Sepsis or pulmonary hypertension were the initial working diagnoses, as the mother did not provide the history of ingestion until after the patient's clinical status worsened. This case highlights the importance of obtaining a thorough maternal history and considering maternal ingestion when the etiology of symptoms is not clear.


Assuntos
Ingestão de Alimentos , Naftalenos/toxicidade , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/diagnóstico , Adulto , Anemia Hemolítica/sangue , Anemia Hemolítica/induzido quimicamente , Anemia Hemolítica/diagnóstico , Feminino , Humanos , Hiperbilirrubinemia/sangue , Hiperbilirrubinemia/induzido quimicamente , Hiperbilirrubinemia/diagnóstico , Recém-Nascido , Naftalenos/administração & dosagem , Gravidez , Efeitos Tardios da Exposição Pré-Natal/sangue
8.
J Vet Emerg Crit Care (San Antonio) ; 30(1): 86-91, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31854068

RESUMO

OBJECTIVE: To describe the diagnosis, management, and outcome of Heinz body hemolytic anemia in a South American coati (Nasua nasua) secondary to suspected leek (Allium ampeloprasum) toxicosis. CASE SUMMARY: A South American coati presented with Heinz body hemolytic anemia following addition of leeks to its diet for 2-5 days prior to initial presentation. Administration of a whole blood transfusion from an animal of the same species (conspecific) and supportive care resulted in immediate improvement in clinical signs. Normal behavior fully returned within 6 days of transfusion. Hematological evidence of anemia resolved by 4 weeks and there were no significant features of oxidative injury present by 8 weeks following initial presentation. NEW INFORMATION PROVIDED: This is the first reported case of Heinz body hemolytic anemia, suspected leek toxicosis, and administration of a blood transfusion in this species.


Assuntos
Anemia Hemolítica/veterinária , Cebolas/envenenamento , Procyonidae , Anemia Hemolítica/sangue , Anemia Hemolítica/diagnóstico , Ração Animal/efeitos adversos , Animais , Diagnóstico Diferencial , Masculino , Envenenamento/sangue , Envenenamento/diagnóstico , Envenenamento/veterinária
10.
Indian J Pediatr ; 87(1): 66-74, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31823208

RESUMO

Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. They are characterized by decreased levels of circulating erythrocytes in blood. The pathognomic finding is a reduced red cell life span with severe anemia or, compensated hemolysis accompanied by reticulocytosis. The diagnostic workup or laboratory approach for hemolytic anemias is based on methodical step-wise testing which includes red blood cell morphology, hematological indices with increased reticulocyte count along with clinical features of hemolytic anemias. If conventional laboratory tests are unable to detect the underlying cause of hemolysis, genetic testing is recommended. Sanger sequencing along with conventional testing is the most efficient way to diagnose the underlying genetic causes, especially in thalassemias/hemoglobinopathies, if required. However, hemolytic anemias being highly heterogeneous disorders, next-generation sequencing-based screening is rapidly becoming an efficient way to decipher the etiologies where common causes have been excluded.


Assuntos
Anemia Hemolítica/diagnóstico , Anemia Hemolítica/genética , Técnicas de Laboratório Clínico/métodos , Anemia Hemolítica Congênita não Esferocítica , Eliptocitose Hereditária/diagnóstico , Eritrócitos/citologia , Eritrócitos/enzimologia , Testes Genéticos/métodos , Deficiência de Glucosefosfato Desidrogenase , Testes Hematológicos/métodos , Hemoglobinopatias/diagnóstico , Hemoglobinúria Paroxística/diagnóstico , Hemólise , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Piruvato Quinase/deficiência , Erros Inatos do Metabolismo dos Piruvatos , Contagem de Reticulócitos , Esferocitose Hereditária/diagnóstico , Talassemia/diagnóstico
11.
J. bras. nefrol ; 41(4): 580-584, Out.-Dec. 2019. graf
Artigo em Inglês | LILACS | ID: biblio-1056602

RESUMO

Abstract In kidney biopsies reviews, scleroderma renal crisis (SRC) is characterized by vascular endothelial injuries, C4d deposits on peritubular vessels, and acute and chronic injuries coexisting on the same biopsy. The clinical signs of thrombotic microangiopathy (TMA) are described in systemic sclerosis (SSc), nevertheless, it has not been related to acute injuries described on kidney biopsies. We report a case of SRC in a patient with scleroderma-dermatomyositis overlap syndrome, which also showed clinical and histopathological data of TMA. On fundus examination, a severe acute hypertensive retinopathy was found. The kidney biopsy showed severe endothelial damage with widening of mucoid cells at the level of the intima, focal concentric proliferation on most small arterioles, and C3, C4d, and IgM deposits along the capillary walls. The genetic study of complement only showed the presence of membrane cofactor protein (MCP) risk haplotypes, without other genetic complement disorders. We understand that in a patient with TMA and SSc, the kidney damage would be fundamentally endothelial and of an acute type; moreover, we would observe clear evidence of complement activation. Once further studies correlate clinical-analytical data with anatomopathological studies, it is likely that we will be forced to redefine the SRC concept, focusing on the relationship between acute endothelial damage and complement activation.


Resumo Nas revisões de biópsias renais, a crise renal esclerodérmica (CRE) é caracterizada por lesões endoteliais vasculares, depósitos de C4d em vasos peritubulares e lesões agudas e crônicas que coexistem na mesma biópsia. Os sinais clínicos de microangiopatia trombótica (MAT) são descritos na esclerose sistêmica (ES); no entanto, não foram relacionados às lesões agudas descritas nas biópsias renais. Relatamos um caso de CRE em um paciente com síndrome de superposição de esclerodermia-dermatomiosite, que também apresentou dados clínicos e histopatológicos de MAT. No exame de fundo do olho, foi encontrada uma retinopatia hipertensiva aguda grave. A biópsia renal mostrou lesão endotelial grave com alargamento das células mucoides ao nível da íntima, proliferação concêntrica focal na maioria das pequenas arteríolas e depósitos de C3, C4d e IgM ao longo das paredes dos capilares. O estudo genético do complemento mostrou apenas a presença de haplótipos de risco da proteína cofator de membrana (PCM), sem outros distúrbios genéticos do complemento. Entendemos que em um paciente com MAT e ES, o dano renal seria fundamentalmente endotelial e do tipo agudo; além disso, observaríamos evidências claras de ativação do complemento. Uma vez que novos estudos correlacionam dados clínico-analíticos com estudos anatomopatológicos, é provável que sejamos forçados a redefinir o conceito de CRE, enfocando a relação entre dano endotelial agudo e ativação do complemento.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Doença de Raynaud/complicações , Transtornos da Visão/etiologia , Lesão Renal Aguda/etiologia , Rim/irrigação sanguínea , Capilares/metabolismo , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Imuno-Histoquímica , Papiledema/patologia , Dermatomiosite/complicações , Dermatomiosite/imunologia , Retinopatia Hipertensiva/diagnóstico , Retinopatia Hipertensiva/patologia , Retinopatia Hipertensiva/tratamento farmacológico , Lesão Renal Aguda/diagnóstico , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/etiologia , Rim/patologia , Rim/diagnóstico por imagem
13.
Arch Argent Pediatr ; 117(6): e684-e687, 2019 12 01.
Artigo em Espanhol | MEDLINE | ID: mdl-31758911

RESUMO

Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can lead to procedural indications, such as splenectomy, contraindicated in these patients. We report the clinical, haematological, and molecular characteristics of two patients from two unrelated families affected by hereditary xerocytosis. Both patients had dehydrated erythrocytes with a high concentration of mean corpuscular hemoglobin, non-pathognomonic smears, markers of hemolysis and a resistant osmotic fragility curve. The diagnosis was confirmed by the sequencing of the PIEZO gene. We emphasize the importance of recognizing the cause of hemolytic anemia to give an accurate therapeutic approach and give adequate genetic counseling.


Assuntos
Anemia Hemolítica Congênita/diagnóstico , Anemia Hemolítica/etiologia , Eritrócitos/patologia , Hidropisia Fetal/diagnóstico , Canais Iônicos/genética , Adolescente , Anemia Hemolítica/diagnóstico , Anemia Hemolítica Congênita/genética , Anemia Hemolítica Congênita/fisiopatologia , Criança , Feminino , Humanos , Hidropisia Fetal/genética , Hidropisia Fetal/fisiopatologia , Masculino
14.
Pan Afr Med J ; 33: 262, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31692740

RESUMO

Hyperbilirubinemia is one of the most widely seen cause of neonatal morbidity. Besides ABO and Rh isoimmunization, minor blood incompatibilities have been also been identified as the other causes of severe newborn jaundice. We report a newborn with indirect hyperbilirubinemia caused by minor blood group incompatibilities (P1, M, N, s and Duffy) whose hemolysis was successfully managed with intravenous immunoglobulin therapy. A thirty-two gestational weeks of preterm male baby became severely icteric on postnatal day 11, with a total bilirubin level of 14.66 mg/dl. Antibody screening tests revealed incompatibility on different minor groups (P1, M, N, s and Duffy (Fya ve Fyb)). On postnatal day thirteen, the level of bilirubin increased to 20.66 mg/dl although baby was under intensive phototherapy. After the administration of intravenous immunoglobulin and red blood cell transfusion, hemoglobin and total bilirubin levels became stabilised. Minor blood incompatibilities should be kept in mind during differential diagnosis of hemolytic anemia of the newborn. They share the same treatment algorithm with the other types hemolytic anemia. New studies revealed that intravenous immunoglobulin treatment in hemolytic anemia have some attractive and glamorous results. It should be seriously taken into consideration for treatment of minor blood incompatibilities.


Assuntos
Anemia Hemolítica/etiologia , Bilirrubina/metabolismo , Hiperbilirrubinemia/etiologia , Imunoglobulinas Intravenosas/administração & dosagem , Anemia Hemolítica/diagnóstico , Incompatibilidade de Grupos Sanguíneos/complicações , Diagnóstico Diferencial , Transfusão de Eritrócitos/métodos , Hemoglobinas/metabolismo , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Icterícia Neonatal/etiologia , Masculino
15.
Indian Pediatr ; 56(10): 845-848, 2019 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-31724541

RESUMO

OBJECTIVE: In light of the recommendation of folic acid supplementation in chronic hemolytic anemia, with possible supratherapeutic dosing and associated side effects, we performed this study to investigate serum folate levels in children with chronic hemolytic anemia. METHODS: Phase 1 was a cross-sectional study of 134 patients in the Pediatric Hematology service, documenting daily dosage and performing serum folate levels. In phase 2, we reduced the dose to 1 mg for 148 patients and repeated the testing after six months. RESULTS: We found very high serum folate levels with Phase 1, with 93.2% above the upper level of normal. In Phase 2, values remained high with 42.5% above the acceptable upper limit. CONCLUSION: Doses of folic acid given to sickle cell and thalassemia patients exceed their actual needs. This should be re-evaluated to strike a balance between benefit and harm, with close monitoring of serum folate levels.


Assuntos
Anemia Falciforme/tratamento farmacológico , Suplementos Nutricionais , Ácido Fólico/administração & dosagem , Talassemia beta/tratamento farmacológico , Anemia Hemolítica/sangue , Anemia Hemolítica/diagnóstico , Anemia Hemolítica/tratamento farmacológico , Anemia Falciforme/sangue , Anemia Falciforme/diagnóstico , Criança , Doença Crônica , Estudos Transversais , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Humanos , Masculino , Prognóstico , Medição de Risco , Arábia Saudita , Estatísticas não Paramétricas , Resultado do Tratamento , Talassemia beta/sangue , Talassemia beta/diagnóstico
17.
Rev Med Liege ; 74(10): 527-534, 2019 Oct.
Artigo em Francês | MEDLINE | ID: mdl-31609556

RESUMO

We report here the case of a 62-year-old patient with Child-Pugh stage C ethylic cirrhosis associated with severe macrocytic anaemia, refractory to iterative transfusions and withdrawal. After a haemorrhagic, deficiency-related, or sideroblastic etiology was ruled out, haemolytic anaemia was suspected. A blood smear allowed diagnosis of haemolytic anaemia with acanthocytes. This offers the opportunity to discuss anaemia in patients with alcoholic cirrhosis, a frequent complication spanning a broad severity range and having the potential to be life-threatening. Its origin can be multifactorial : acute haemorrhage, dilution, haemolysis (here due to acanthocytosis), marrow insufficiency caused by direct alcohol toxicity, malnutrition, iron deficiency, vitamin B9 or B12 deficiency, chronic inflammation, splenic sequestration induced by portal hypertension...


Assuntos
Anemia Hemolítica , Anemia Macrocítica , Cirrose Hepática Alcoólica , Acantócitos , Anemia Hemolítica/complicações , Anemia Hemolítica/diagnóstico , Anemia Macrocítica/complicações , Anemia Macrocítica/diagnóstico , Transfusão de Sangue , Diagnóstico Diferencial , Humanos , Cirrose Hepática Alcoólica/complicações , Cirrose Hepática Alcoólica/diagnóstico , Pessoa de Meia-Idade
19.
Clin Biochem ; 74: 80-85, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31493379

RESUMO

Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes from clinically silent conditions to very severe disorders. In many cases, diagnosis is very difficult due to the instability of Hb mutants or the occurrence of misleading symptoms, such as cyanosis or hypoxia. Here we report the case of a young female with undiagnosed chronic haemolytic anaemia and low oxygen saturation in the absence of respiratory distress. High performance liquid chromatography showed the occurrence of an abnormal peak in the HbA2 region, which disappeared few days after blood sampling. Genetic analysis of both α genes revealed the -α3.7 deletion in heterozygous state and a novel mutation c.130 T > C leading to the substitution of Phenylalanine at codon 43 with Leucine in the α1 gene. This substitution originated a new Hb variant, named Hb Vanvitelli, with a molecular mass of 15,092.2 ±â€¯0.4 Da. Biochemical and laboratory tests described a hyper unstable Hb variant with altered oxygen affinity that was clinically significant only when co-inherited with genetic defects affecting the α2 locus. This case highlights the genetic complexity and diagnostic pitfalls of Hb variants, defined "experiments of nature" which can generate severe clinical conditions.


Assuntos
Anemia Hemolítica/diagnóstico , Anemia Hemolítica/genética , Hemoglobinas Anormais/genética , Deleção de Sequência , alfa-Globinas/genética , Adolescente , Sequência de Aminoácidos/genética , Substituição de Aminoácidos/genética , Anemia Hemolítica/sangue , Cromatografia Líquida , Doença Crônica , Códon/genética , Feminino , Testes Genéticos , Heterozigoto , Humanos , Itália , Espectrometria de Massas , Oximetria , Oxigênio/sangue , Linhagem , Fenótipo
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