Create issue ticket

304 Possible Causes for Autosomal Dominant, Hematocrit Decreased, Pediatric Disorder

  • Hereditary Spherocytosis

    A complete blood count (CBC) may show increased reticulocytes, a sign of increased red blood cell production, and decreased hemoglobin and hematocrit.[en.wikipedia.org] 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[touchoncology.com] In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal.[emedicine.com]

  • Acute Hepatic Porphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] 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[symptoma.com] Genetic counseling Acute hepatic porphyrias are monogenic hereditary disorders that are transmitted in an autosomal dominant manner (except the hereditary deficit of delta-aminolevulinic[orpha.net]

  • Congenital Dyserythropoietic Anemia

    Following delivery the infant had serial blood counts performed over a 6-week period, which noted a steady decrease in her hematocrit to 16%.[bloodjournal.org] Hereditary Elliptocytosis and Related Disorders Pediatric Lead Toxicity Pediatric Megaloblastic Anemia Pediatric Myelodysplastic Syndrome Sickle Cell Anemia Transient Erythroblastopenia[emedicine.medscape.com] Inherited • Autosomal dominant • Cause: uroporphyrinogen III decarboxylase e* • Urine: uroporphyrin III and uroporphyrin I • Feces: protoporphyrin, coproporphyrin 2.[quizlet.com]

  • 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.[childrenshospital.org] ORPHA:1047 Synonym(s): - Prevalence: Unknown Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or X-linked dominant or Mitochondrial inheritance[orpha.net] Throughout fetal life, erythrocytes decrease in size and increase in number: hematocrit increases from 30% to 40% during the second trimester to 50% to 63% at term.[pedsinreview.aappublications.org]

  • Common Variable Immunodeficiency

    Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr. 2009; 154(6): 888-94. PubMed Wilmott RW.[arupconsult.com] Autosomal dominant CVID has been linked to chromosome 4q. [24] One study supports the existence of a disease-causing gene for autosomal dominant CVID/IgA deficiency on chromosome[emedicine.com] The molecular basis and treatment of primary immunodeficiency disorders. Curr Opin Pediatr 1997;9:570-576. 6. Notarangelo LD, Hayward AR.[hawaii.edu]

  • Congenital Hemolytic Anemia

    Hemolytic anemia Hereditary elliptocytosis Hereditary pyropoikilocytosis Red cell membrane disorder Pediatrics, Perinatology, and Child Health Hematology Oncology Cite this[scholars.northwestern.edu] An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes.[icd9data.com] After partial splenectomy, children overall had decreased transfusion requirements, increased hematocrits, decreased bilirubin levels, decreased reticulocyte counts, and elimination[ncbi.nlm.nih.gov]

  • Iron Deficiency Anemia

    Blood Disorders Center, an integrated pediatric hematology and oncology partnership between Dana-Farber Cancer Institute and Boston Children's Hospital.[childrenshospital.org] The latter is an autosomal dominant disorder characterized by distinctive cataracts and HF in the absence of iron overload.[ncbi.nlm.nih.gov] ; normal unless infection is present Cells are iron deficient; as hematocrit falls below 30%, hypochromic microcytic cells appear, followed by a decrease in MCV White blood[medical-dictionary.thefreedictionary.com]

  • Nephroblastoma

    41.7 %) and hematocrit (13.9 %).[ncbi.nlm.nih.gov] News & World Report ranks us among the top pediatric nephrology and cancer programs in the country.[choa.org] Familial forms are very rare (1% of cases) and are transmitted in an autosomal dominant fashion.[orpha.net]

  • Acute Myelocytic Leukemia

    Hasle H: Myelodysplastic and myeloproliferative disorders in children. Curr Opin Pediatr 19 (1): 1-8, 2007.[northshore.org] dominant mode of genetic transmission.[ncbi.nlm.nih.gov] Autosomal dominant of X-linked transmission is also possible and should be evaluated in other affected families.[ncbi.nlm.nih.gov]

  • Cystic Fibrosis

    Children's is home to the leading pediatric pulmonology program in Georgia.[choa.org] Besides, there was a rare association with autosomal dominant type of polycystic renal disease.[ncbi.nlm.nih.gov] Post-bleed sampling showed a 10–14% reduction in hematocrit and a 4–10% decrease in blood volume.[ncbi.nlm.nih.gov]

Similar symptoms