Hereditary Spherocytosis
All experienced an increase in hemoglobin and decrease in reticulocyte count early after LPS and at last follow-up. Twenty-two were sent for genetic analysis.[ncbi.nlm.nih.gov]
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
Cord blood hemoglobin (Hb) at birth in full term infants is 16-17g/dL, does not decrease appreciably during the first week of life, and then declines slowly to a physiological[oncologynurseadvisor.com]
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
It is defined by abnormally low hemoglobin concentration or decreased red blood cells. Several classification systems exist.[ncbi.nlm.nih.gov]
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]
Common Variable Immunodeficiency
[…] glycosylated hemoglobin A1c values.[ncbi.nlm.nih.gov]
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]
Congenital Hemolytic Anemia
For children with hereditary spherocytosis, after surgery there was an increase in hemoglobin (baseline 10.1 1.8 g/dl, 52 week 12.8 1.6 g/dl; mean SD), decrease in reticulocyte[ncbi.nlm.nih.gov]
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]
Iron Deficiency Anemia
Although the risk of GI cancer (GIC) increases as hemoglobin decreases, guidelines do not usually recommend hemoglobin thresholds for IDA investigation.[ncbi.nlm.nih.gov]
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]
Hereditary Sideroblastic Anemia
Males affected with sideroblastic anemia had growth retardation, hypochromic microcytic anemia, elevated serum iron, decreased unsaturated iron-binding capacity, increased[ncbi.nlm.nih.gov]
Exclusive bonus features include Diagnosaurus DDx, 200 pediatrics topics, and medical news feeds.[unboundmedicine.com]
[…] recessive sideroblastic anemia Autosomal dominant aplasia and myelodysplasia Autosomal recessive sideroblastic anemia Blackfan-Diamond anemia Congenital amegakaryocytic thrombocytopenia[se-atlas.de]
Acute Myelocytic Leukemia
decreased, decreased appetite, oropharyngeal pain, and alopecia with AML are epistaxis, back pain, pain in extremity, erythema, ras h maculo-papular, diarrhea, constipation[neupogenhcp.com]
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]
Nephroblastoma
The most frequently altered parameter was hemoglobin, which was decreased in 41.7 % of survivors. Decraesed hemoglobin may worsen quality of survivors life.[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]