Deficiencia de Piruvato Quinasa

Descripción General

Definición

La deficiencia de piruvato quinasa (PK) es un trastorno enzimático autosómico recesivo de los LOS Neisseria eritrocitos que provoca hemólisis crónica debido a 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 el gen PKLR.

Epidemiología

• Defecto extremadamente raro, pero el 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 la vía de la glucólisis.
• La prevalencia se desconoce; las estimaciones han oscilado entre 1 de cada 20 000 y 1 de cada 115 000.
• Distribución mundial
• 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:
  • Personas de ascendencia noreuropea y china
  • Poblaciones aisladas con antecedentes de consanguinidad por efecto fundador

Etiología y Fisiopatología

Clasificación y etiología

• Hereditaria (mutaciones genéticas 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 el gen PKLR):
  • Los LOS Neisseria individuos homocigotos presentan manifestaciones clínicas.
  • Los LOS Neisseria individuos heterocigotos suelen ser asintomáticos.
  • Gen PKLR localizado 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 el cromosoma 1q21
• Adquirida (secundaria a enfermedades subyacentes):
  • Leucemia
  • 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 sideroblástica refractaria
  • Complicación de quimioterapia

Fisiología normal

La piruvato quinasa es una enzima necesaria para la conversión de fosfoenolpiruvato ( PEP PEP A monocarboxylic acid anion derived from selective deprotonation of the carboxy group of phosphoenolpyruvic acid. It is a metabolic intermediate in glycolysis; gluconeogenesis; and other pathways. Glycolysis, por sus siglas 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 inglés) 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 piruvato y ATP 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 la glucólisis, que produce energía.

• Los LOS Neisseria eritrocitos dependen de la glucólisis para producir ATP (carecen de mitocondrias).
• El ATP es necesario para el mantenimiento de la función celular y la integridad estructural.

Fisiopatología

Efecto de la deficiencia de PK:

• Acumulación de precursores 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 la glucólisis, especialmente 2,3-difosfoglicerato (2,3-DPG).
• ↓ Producción de:
  • Piruvato
  • ATP
  • Lactato

Consecuencias de la deficiencia de PK:

• Hemólisis:
  • Acumulación de precursores intermedios y metabolitos glucolíticos 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:
  • ↓ Plasticidad de la membrana eritrocitaria y deshidratación celular → destrucción prematura de eritrocitos 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 el bazo.
  • La hemólisis suele ser extravascular, pero la hemólisis severa puede ser intravascular.
• ↑ Suministro de oxígeno:
  • ↑ 2,3-DPG → desplazamiento hacia la derecha de la curva de disociación del oxígeno (a los eritrocitos les cuesta más “retener” el O₂) → 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 ↑ aporte de oxígeno a los LOS Neisseria tejidos periféricos por volumen de hemoglobina.
  • Permite una mayor tolerancia fisiológica a la 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 con deficiencia de PK
• Sobrecarga de hierro:
  • Eritropoyesis inefectiva → ↑ producción de precursores eritrocitarios precoces.
  • ↓ Hepcidina, que conduce a:
    • ↑ Absorción de hierro
    • ↓ Retención de hierro 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 macrófagos

Presentación Clínica y Complicaciones

Presentación clínica

La edad y la severidad 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 el momento de la presentación dependen de la extensión de la hemólisis y la 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. Además, la edad de presentación puede variar.

Signos y síntomas 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 recién nacidos:

• Ictericia neonatal/kernícterus
• Retraso 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 el crecimiento, escaso aumento de peso
• Retraso del crecimiento, letargo
• Protuberancia frontal Frontal The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the nasal bone and the cheek bone on each side of the face. Skull: Anatomy
• Hematopoyesis extramedular cutánea
• Hidropesía fetal (debida a una 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 severa in utero)

Signos y síntomas 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 niños más grandes y adultos:

• Hallazgos compatibles con 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.
• Palidez
• Ictericia
• Esplenomegalia de leve a grave
• Cálculos biliares pigmentarios (bilirrubina)
• Úlceras crónicas 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 piernas

Complicaciones

• Insuficiencia cardíaca
• Hepatopatía
• Disfunción endocrina (por ejemplo, diabetes Diabetes Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and dysfunction of the regulation of glucose metabolism by insulin. Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. Type 2 DM has a significant association with obesity and is characterized by insulin resistance. Diabetes Mellitus mellitus, hipogonadismo)
• Artropatías
• Sepsis Sepsis Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by hypotension despite adequate fluid infusion, it is called septic shock. Sepsis and Septic Shock postesplenectomía (mayor incidencia 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 niños)
• Enfermedad tromboembólica postesplenectomía (mayor incidencia 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 adultos)
• Hipertensión pulmonar
• Mayor riesgo 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 aplásica con ciertas infecciones virales (por ejemplo, parvovirus B19 Parvovirus B19 Primate erythroparvovirus 1 (generally referred to as parvovirus B19, B19 virus, or sometimes erythrovirus B19) ranks among the smallest DNA viruses. Parvovirus B19 is of the family Parvoviridae and genus Erythrovirus. In immunocompetent humans, parvovirus B19 classically results in erythema infectiosum (5th disease) or “slapped cheek syndrome.” Parvovirus B19).
• Accidente cerebrovascular isquémico
• Riesgos asociados a transfusiones sanguíneas repetidas

Diagnóstico

La deficiencia de piruvato quinasa es rara; es importante descartar otras causas 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.

Antecedentes y examen físico

• Características clínicas de la 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
• Antecedentes familiares de:
  • Síntomas similares
  • Causa desconocida de la 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
  • Deficiencia de piruvato quinasa

Evaluación básica de laboratorio

Hemograma completo con diferencial:

• ↓ Hemoglobina y hematocrito
• Volumen corpuscular medio (VCM) normal o ↑.
• ↑ Reticulocitos (especialmente después de una esplenectomía)
• Plaquetas normales o ↑ (trombocitosis reactiva)

Química:

• ↑ Bilirrubina indirecta
• ↑ Lactato deshidrogenasa ( LDH LDH Osteosarcoma; puede ser normal)
• ↓ Haptoglobina

Pruebas de antiglobulina:

• Prueba de antiglobulina directa (también conocida como prueba de Coombs) negativa
• Prueba de antiglobulina indirecta negativa

Frotis de sangre periférica, centrándose 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 morfología de los LOS Neisseria eritrocitos:

• Los LOS Neisseria hallazgos característicos de otras causas 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 hereditaria están ausentes.
• Células espinosas (equinocitos)
• Eritropoyesis acelerada:
  • Policromasia
  • Anisocitosis
  • Poiquilocitosis
  • Eritrocitos nucleados

Pruebas confirmatorias

El diagnóstico se confirma si un paciente con 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/hemólisis compensada presenta anomalías 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 pruebas bioquímicas o genéticas.

Pruebas bioquímicas:

• Estándar de oro
• Evalúa la actividad de la piruvato quinasa 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
• Se espera ↓ actividad piruvato quinasa 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 deficiencia de PK.
• Un resultado negativo no elimina la posibilidad de una deficiencia de PK:
  • Los LOS Neisseria leucocitos y las plaquetas también tienen actividad PK. Si no se eliminan del hemolisado antes de la prueba, los LOS Neisseria resultados pueden estar sesgados.
  • Si se sigue sospechando una deficiencia de PK, considere la posibilidad de realizar ensayos especializados o pruebas genéticas.
• Nota: Las pruebas bioquímicas deben aplazarse 2-3 meses después de una transfusión.

Pruebas genéticas:

• Busca mutaciones 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 PKLR
• No se realizan como pruebas iniciales; la importancia de algunas mutaciones no está clara.

Indicaciones de las pruebas genéticas:

• Un individuo con hemólisis o 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 inexplicable que tiene un hermano con una deficiencia conocida de PK.
• Pacientes con 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 con una prueba negativa de antiglobulina directa cuando se han descartado otras causas.
• Pruebas prenatales a embarazadas que ya tienen un hijo con:
  • Hidropesía fetal
  • 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 severa dependiente de transfusión, no resuelta por esplenectomía

Tratamiento y Pronóstico

Tratamiento

El tratamiento depende de la edad 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 el momento del diagnóstico y de la severidad.

• Periodo intrauterino ( 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 caso de hidropesía fetal por 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 severa): transfusión intrauterina.
• Periodo neonatal (presencia de hiperbilirrubinemia):
  • Fototerapia
  • Exanguinotransfusión
• Desde la infancia hasta la adultez (presencia 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 severa):
  • Transfusiones de eritrocitos
  • Farmacoterapia:
    • Mitapivat: un activador de la piruvato quinasa recientemente aprobado por la FDA para el tratamiento de la 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 sintomática.
    • Ácido fólico
  • Esplenectomía: indicada 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 severos, dependientes de transfusión, que no responden a la mitapivat
  • Quelación del hierro (sobre todo 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 casos que requieren tratamiento a largo plazo con transfusiones)
  • Terapias 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 investigación:
    • Trasplante de células madre hematopoyéticas (para pacientes con 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 severa que requieren múltiples transfusiones tras una esplenectomía).
    • Terapia génica

Monitoreo

Se debe monitorear 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 pacientes lo siguiente:

• Síntomas y signos clínicos 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
• Crecimiento y desarrollo
• Laboratorios:
  • Hemograma completo con diferencial
  • Recuento de reticulocitos
  • Niveles de ferritina

Pronóstico

• Formas leves y moderadas de deficiencia de PK: pronóstico excelente
• Formas severas de deficiencia de PK: pronóstico dependiente de la edad
  • Principalmente sintomático 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 primera infancia
  • Cuanto mayor es el paciente 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 el momento del diagnóstico, mejor es el pronóstico.

Diagnóstico Diferencial

• Deficiencia de glucosa-6-fosfato deshidrogenasa ( G6PD G6PD Pentose Phosphate Pathway): Trastorno hereditario recesivo ligado al AL Amyloidosis cromosoma X que causa 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 debido a deficiencias 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 G6PD G6PD Pentose Phosphate Pathway, que normalmente ayuda a los LOS Neisseria eritrocitos a generar 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 los LOS Neisseria protege de las lesiones oxidativas. Se presenta con síntomas 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, como ictericia, esplenomegalia y palidez. El diagnóstico se realiza mediante la presentación clínica, el análisis de frotis sanguíneo y la medición del nivel de enzima G6PD G6PD Pentose Phosphate Pathway. El tratamiento es sintomático e incluye evitar los LOS Neisseria desencadenantes.
• 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 drepanocítica o de células falciformes: grupo de trastornos genéticos 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 que una molécula anómala de hemoglobina transforma los LOS Neisseria eritrocitos 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 células falciformes. Esto provoca 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 crónica, episodios vaso-oclusivos, dolor Dolor Inflammation y daños orgánicos. Los LOS Neisseria pacientes son susceptibles de sufrir infecciones, infartos de diversos órganos y aplasia Aplasia Cranial Nerve Palsies medular. La afectación pulmonar 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 el síndrome torácico agudo puede ser rápidamente mortal. Por lo general, las células falciformes pueden verse 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 el frotis periférico, pero se necesita una electroforesis de hemoglobina para el diagnóstico. El manejo incluye tratamiento sintomático, hidroxiurea, eliminación de desencadenantes y analgésicos.
• Hiperbilirrubinemia del recién nacido: elevación de la bilirrubina sérica total, que se presenta clínicamente con una coloración amarillenta de la piel, la esclerótica y las mucosas. Aunque este trastorno es típicamente ictericia fisiológica, debe distinguirse de la ictericia patológica. El diagnóstico se basa 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 hallazgos clínicos y los LOS Neisseria análisis de sangre. El tratamiento puede incluir fototerapia y exanguinotransfusión.
• Esferocitosis hereditaria: trastorno causado por una deficiencia de proteínas citoesqueléticas 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. Esto provoca la pérdida de estabilidad de la membrana y la deformabilidad del eritrocito, lo que da a la célula una forma esférica (esferocito). Estas células están predispuestas a la degradación esplénica, lo que conduce a la hemólisis. La enfermedad se presenta con 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 leve a moderada, hiperbilirrubinemia, reticulocitosis, aumento de la CHCM y esferocitos 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 el frotis de sangre periférica. El tratamiento incluye ácido fólico y esplenectomía (tratamiento definitivo).