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1,866 Possible Causes for Autosomal Dominant, Hemolytic Anemia, Pediatric Disorder

  • Hereditary Spherocytosis

    Hereditary spherocytosis (HS) and pyruvate kinase (PK) deficiency are the most common causes of congenital hemolytic anemia.[] The 2003 Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Database (KID), a robust and widely used measure of pediatric disorders, has estimated that the number[] In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal.[]

  • Acute Hepatic Porphyria

    anemias attributable to enzyme disorders ( D55.- ) Marfan's syndrome ( Q87.4 ) 5-alpha-reductase deficiency ( E29.1 ) Metabolic disorders E80 ICD-10-CM Diagnosis Code E80[] Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[]

  • Erythropoietic Porphyria

    Congenital erythropoietic porphyria with hemolytic anemia.[] Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[] It is inherited in an autosomal dominant pattern.[]

  • Congenital Dyserythropoietic Anemia

    She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period.[] Hereditary Elliptocytosis and Related Disorders Pediatric Lead Toxicity Pediatric Megaloblastic Anemia Pediatric Myelodysplastic Syndrome Sickle Cell Anemia Transient Erythroblastopenia[] Inherited • Autosomal dominant • Cause: uroporphyrinogen III decarboxylase e* • Urine: uroporphyrin III and uroporphyrin I • Feces: protoporphyrin, coproporphyrin 2.[]

  • Distal Renal Tubular Acidosis

    We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene.[] Hulton National Institute on Deafness and Other Communication Disorders, Rockville, Maryland, USA Doris K.[] DRTA can be autosomal dominant or autosomal recessive.[]

  • Chronic Mucocutaneous Candidiasis

    Notable features of the case include autoimmune hemolytic anemia, probable hypoparathyroidism, and hypogonadal hypogonadism.[] Pediatr Infect Dis J. vol. 20. 2001 Feb. pp. 197-206. (This is another review article that goes into greater depth regarding the different CMC disorders.)[] The cause of autosomal dominant CMC is unknown. METHODS: We evaluated 14 patients from five families with autosomal dominant CMC.[]

  • Anemia

    Anyone of any age can develop hemolytic anemia.[] One of the most common pediatric disorders, anemia has many potential causes. Anemia is often a symptom of a disease rather than a disease itself.[] ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[]

  • Hypogammaglobulinemia

    AIHA, Autoimmune hemolytic anemia; FVC, forced vital capacity; ITP, idiopathic thrombocytopenic purpura; TLC, total lung capacity.[] Sensorineural hearing loss in primary antibody deficiency disorders. J Pediatr. 2008 Aug. 153(2):293-6. [Medline].[] The disorder, which is inherited as an autosomal dominant trait, is caused by heterozygous mutations of the chemokine receptor CXCR4.[]

  • Hereditary Coproporphyria

    Three siblings with intense jaundice and hemolytic anemia at birth were found to excrete a high level of coproporphyrin in their urine and feces; the pattern of fecal porphyrin[] Abstract Genetic defects of coproporphyrinogen oxidase (CPO) lead to hereditary coproporphyria, an inherited autosomal dominant porphyria.[] The disease typically presents at birth with severe neonatal jaundice and hemolytic anemia.[]

  • Congenital Hemolytic Anemia

    Congenital hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorders.[] Hemolytic anemia Hereditary elliptocytosis Hereditary pyropoikilocytosis Red cell membrane disorder Pediatrics, Perinatology, and Child Health Hematology Oncology Cite this[] An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes.[]

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