Deficiencia de Glucosa-6-fosfato Deshidrogenasa (G6PD)

Epidemiología y Etiología

Epidemiología

• La deficiencia de glucosa-6-fosfato deshidrogenasa ( G6PD G6PD Pentose Phosphate Pathway) es el trastorno enzimático genético más común en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria seres humanos.
• Se encuentra en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las regiones donde la malaria Malaria Malaria is an infectious parasitic disease affecting humans and other animals. Most commonly transmitted via the bite of a female Anopheles mosquito infected with microorganisms of the Plasmodium genus. Patients present with fever, chills, myalgia, headache, and diaphoresis. Plasmodium/Malaria es endémica (ya que ofrece una relativa resistencia a la infección por Plasmodium Plasmodium A genus of protozoa that comprise the malaria parasites of mammals. Four species infect humans (although occasional infections with primate malarias may occur). These are plasmodium falciparum; plasmodium malariae; plasmodium ovale, and plasmodium vivax. Species causing infection in vertebrates other than man include: plasmodium berghei; plasmodium chabaudi; p. Vinckei, and plasmodium yoelii in rodents; p. Brasilianum, plasmodium cynomolgi; and plasmodium knowlesi in monkeys; and plasmodium gallinaceum in chickens. Antimalarial Drugs falciparum): Países mediterráneos, África, Oriente Medio
• Distribución por género:
  • Afecta predominantemente a los LOS Neisseria varones debido a su herencia recesiva ligada al AL Amyloidosis cromosoma X.
  • Las mujeres pueden ser portadoras silenciosas si reciben 1 gen defectuoso (generalmente asintomáticas).
  • Las mujeres pueden verse afectadas si reciben 2 genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure defectuosos (el padre está afectado y la madre es portadora).

Etiología

• Mutación en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la región codificante del gen G6PD G6PD Pentose Phosphate Pathway
• Un cambio de base de un solo nucleótido (mutación puntual sin sentido) que da lugar a una única sustitución de aminoácidos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la enzima
• Se conocen casi 200 mutaciones diferentes.
• La mutación disminuye la vida media de la enzima.
• La deficiencia de G6PD G6PD Pentose Phosphate Pathway provoca un defecto en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la derivación de la pentosa fosfato durante la glucólisis.
• La herencia es recesiva ligada al AL Amyloidosis cromosoma X (banda Xq28).

Fisiopatología

• La G6PD G6PD Pentose Phosphate Pathway es la enzima que limita la velocidad en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la vía de las pentosas fosfato.
• La enzima G6PD G6PD Pentose Phosphate Pathway es responsable de:
  • Oxidación de la glucosa-6-fosfato
  • Reducción de nicotinamida adenina dinucleótido fosfato (NADP+) a NADPH NADPH Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5′-phosphate (nmn) coupled by pyrophosphate linkage to the 5′-phosphate adenosine 2. Pentose Phosphate Pathway
• El NADPH NADPH Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5′-phosphate (nmn) coupled by pyrophosphate linkage to the 5′-phosphate adenosine 2. Pentose Phosphate Pathway mantiene el glutatión en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum su forma reducida.
• El glutatión reducido es necesario para neutralizar los LOS Neisseria metabolitos oxidativos.
• En EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria eritrocitos, esta es la única vía que produce NADPH NADPH Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5′-phosphate (nmn) coupled by pyrophosphate linkage to the 5′-phosphate adenosine 2. Pentose Phosphate Pathway.
• Por lo tanto, la falta de G6PD G6PD Pentose Phosphate Pathway resulta en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum una deficiencia de NADPH NADPH Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5′-phosphate (nmn) coupled by pyrophosphate linkage to the 5′-phosphate adenosine 2. Pentose Phosphate Pathway y un mayor daño oxidativo.
• Los LOS Neisseria factores de estrés oxidativo pueden desnaturalizar la hemoglobina y causar hemólisis intravascular.
• La hemólisis extravascular se debería a la eliminación esplénica de los LOS Neisseria eritrocitos deformados.

Presentación Clínica

• Antecedente de desencadenante del estrés oxidativo
• Signos y síntomas episódicos de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica intravascular:
  • Palidez
  • Falta de aire
  • Fatiga
  • Taquicardia
  • Soplo (se escucha mejor en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria bordes superiores del esternón)
  • Ictericia
  • Hemoglobinuria Hemoglobinuria The presence of free hemoglobin in the urine, indicating hemolysis of erythrocytes within the vascular system. After saturating the hemoglobin-binding proteins (haptoglobins), free hemoglobin begins to appear in the urine. Transfusion Reactions (orina de color cola), hematuria Hematuria Presence of blood in the urine. Renal Cell Carcinoma
  • Neonatos (varones): ictericia patológica prolongada

Diagnóstico

La deficiencia de glucosa-6-fosfato deshidrogenasa se sospecha en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum casos de síntomas hemolíticos episódicos. Las pruebas diagnósticas deben incluir lo siguiente:

• Hemograma
  • ↓ Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange
  • ↑ Reticulocitos
  • ↑ Lactato deshidrogenasa ( LDH LDH Osteosarcoma)
  • ↓ Haptoglobina
  • ↑ Bilirrubina
• Frotis de sangre periférica
  • Cuerpos de Heinz (visibles con tinciones supravitales como el nuevo azul de metileno o el violeta de cristal, pero no con los LOS Neisseria tintes rutinarios de Romanowsky; rara vez se realizan hoy en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum día)
  • Células mordidas, que indican daños en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la membrana de los LOS Neisseria eritrocitos
• Prueba de Beutler
  • Realizado 2–3 semanas después de un episodio agudo (que elimina las células más antiguas y deficientes en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum G6PD G6PD Pentose Phosphate Pathway, por lo que se deja pasar un periodo de tiempo para evaluar los LOS Neisseria niveles de referencia)
  • Cuantifica los LOS Neisseria niveles de NADPH NADPH Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5′-phosphate (nmn) coupled by pyrophosphate linkage to the 5′-phosphate adenosine 2. Pentose Phosphate Pathway/ G6PD G6PD Pentose Phosphate Pathway

Tratamiento

• Prevención: evitar los LOS Neisseria factores de estrés oxidativo (infecciones, medicamentos, consumo de habas)
• Durante la hemólisis:
  • Si Hb Hb The oxygen-carrying proteins of erythrocytes. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements. Gas Exchange < 9 con hemólisis: transfusión de sangre
  • Ictericia neonatal: fototerapia o exanguinotransfusión
• La esplenectomía debe considerarse en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum casos raros de anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types hemolítica crónica.

Diagnóstico Diferencial

• Anemias hemolíticas heredadas:
  • Otras deficiencias enzimáticas (e.g., piruvato quinasa)
  • Hemoglobinopatías (e.g., anemia Anemia Anemia is a condition in which individuals have low Hb levels, which can arise from various causes. Anemia is accompanied by a reduced number of RBCs and may manifest with fatigue, shortness of breath, pallor, and weakness. Subtypes are classified by the size of RBCs, chronicity, and etiology. Anemia: Overview and Types de células falciformes, talasemia)
  • Defectos de la membrana/del citoesqueleto de los LOS Neisseria eritrocitos (e.g., esferocitosis hereditaria)
• Anemias hemolíticas adquiridas: pueden tener una etiología inmune o no inmune