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2,134 Possible Causes for Autosomal Dominant, Jaundice, Pediatric Disorder

  • Hereditary Spherocytosis

    This case also highlights the fact that physicians should consider concomitant hemolytic disease in patients in whom jaundice and infections that rarely cause jaundice coexist[] 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

    […] nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice[] 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[]

  • Hereditary Hemorrhagic Telangiectasia

    Evaluations of her jaundice revealed chronic parenchymal liver disease with multiple nodules in the liver with early portal hypertension.[] The monoclonal antibody bevacizumab, seems to be a good option in this disorder.[] BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension (PAH) is a rare disease that could be inherited with an autosomal dominant pattern.[]

  • Crigler-Najjar Syndrome Type 1

    Clinically apparent jaundice is unusual in patients with beta-thalassemia major.[] Inherited disorders of bilirubin clearance. Pediatr Res. 2016;79(3):378-386. Van Dijk R, Beuers U, Bosma PJ.[] Both autosomal dominant transmission with variable penetrance and autosomal recessive transmission have been reported.[]

  • Congenital Dyserythropoietic Anemia

    , Neonatal/diagnosis Jaundice, Neonatal/etiology Jaundice, Neonatal/therapy Microscopy, Electron Phototherapy Pregnancy[] 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.[]

  • Congenital Liver Cirrhosis

    Kidney failure Jaundice Severe itching Gallstones A small number of people with cirrhosis get liver cancer.[] Contact the Pediatric Surgery Service at: 617-726-0270 Pediatric Liver and Biliary Disease Center Pediatric Patients Only The Pediatric Liver and Biliary Disease Center at[] Definition / general Progressive lesion associated with autosomal recessive infantile polycystic kidney disease, mildly associated with autosomal dominant polycystic kidney[]

  • Hemolytic Uremic Syndrome

    A week later, he presents to the ER with jaundice, abdominal pain, and easy bruising. Lab results come back with low platelet count, anemia, and increased creatinine.[] Rekha Hans, Satya Prakash, Ratti Ram Sharma and Neelam Marwaha, Role of therapeutic apheresis in pediatric disorders, Pediatric Hematology Oncology Journal, 10.1016/j.phoj[] Both autosomal dominant and autosomal recessive forms of inheritance are observed. Autosomal recessive HUS often occurs early in childhood.[]

  • Congenital Hemolytic Anemia

    jaundice (yellowing) and splenomegaly (enlargement of the spleen).[] 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.[]

  • Dubin-Johnson Syndrome

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia.[] Inherited disorders of bilirubin clearance. Pediatr Res. 2016 Mar;79(3):378-86. doi: 10.1038/pr.2015.247. Epub 2015 Nov 23. Review. Rastogi A, Krishnani N, Pandey R.[] This text then examines the physiopathology of acute intermittent porphyria, which is transmitted as autosomal dominant disorders with incomplete penetrance.[]

  • Congenital Liver Cyst

    In particular, MRCP is helpful for confirming the conditions of biliary compression in cases of obstructive jaundice.[] dominant polycystic liver disease (ADPLD) autosomal dominant polycystic kidney disease (ADPKD) congenital solitary nonparasitic cyst ( 12679872 ) hepatic biliary cysts hepatic[] ., Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet, 2004. 36(6): p. 575-7. 17.[]

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