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274 Possible Causes for Acute Cholecystitis, Autosomal Dominant, Pediatric Disorder

  • Hereditary Spherocytosis

    Pigmented gallstones (calcium bilirubinate) Elevated reticulocyte count, indirect bilirubin, serum LDH Treatment : Folic acid supplementation Splenectomy Complications : Acute[medlibes.com] 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]

  • Familial Mediterranean Fever

    Laparoscopic intervention in pregnant patients with surgical abdomen such as acute cholecystitis is the optimal method of treatment.[ncbi.nlm.nih.gov] […] doi: 10.1097/BOR.0000000000000315 PEDIATRIC AND HERITABLE DISORDERS: Edited by Polly J.[journals.lww.com] […] that mimics autosomal dominant inheritance.[ghr.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] Henriksen K, Gram J, Schaller S. et al Characterization of osteoclasts from patients harbouring a G215R mutation in CIC‐7 causing autosomal dominant osteopetrosis type II.[ncbi.nlm.nih.gov]

  • Erythropoietic Protoporphyria

    […] and chronic cholecystitis Chronic liver conditions, such as scarring and fibrosis, due to liver toxicity How is Erythropoietic Protoporphyria Treated?[dovemed.com] J Dev Behav Pediatr. 2006 Jun;27(3):188-92. Neira-Fresneda J, Potocki L.[ghr.nlm.nih.gov] The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct.[ncbi.nlm.nih.gov]

  • Sickle Cell Disease

    Cholelithiasis may be asymptomatic or result in acute cholecystitis, requiring surgical intervention. The liver may also become involved.[emedicine.medscape.com] Elder and Jeremie Heath Estepp, Hematologic Disorders of the Eye, The Eye in Pediatric Systemic Disease, 10.1007/978-3-319-18389-3_11, (295-325), (2017).[doi.org] See illustration at cell. sickle cell anemia an autosomal dominant, chronic form of hemolytic anemia in which large numbers of sickle cells circulate in the blood; it is most[medical-dictionary.thefreedictionary.com]

  • Familial Neutropenia

    Tokyo Guidelines for Acute Cholecystitis 2018 Provides diagnostic criteria and severity grading for acute cholecystitis. tPA (Tissue Plasminogen Activator) Dosing for Stroke[mdcalc.com] […] physician involved in the diagnosis of pediatric bone marrow disorders.[books.google.de] Pedigrees of four of these families were also studied, which pointed to an autosomal dominant form of inheritance.[cags.org.ae]

  • Acute Intermittent Porphyria

    Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition. Edited by DJ Dietzen, MJ Bennett, ECC Wong.[content.sciendo.com] Research Article Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease Department of[doi.org] AIP is an autosomal dominant condition with incomplete penetrance, caused by deficiency of porphobilinogen deaminase, an enzyme found in the synthetic pathway for heme.[ncbi.nlm.nih.gov]

  • Congenital Liver Cyst

    Acute cholecystitis is an indication for cholecystectomy.[clinicaladvisor.com] dominant polycystic liver disease (ADPLD) autosomal dominant polycystic kidney disease (ADPKD) congenital solitary nonparasitic cyst ( 12679872 ) hepatic biliary cysts hepatic[humpath.com] ., Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet, 2004. 36(6): p. 575-7. 17.[rarediseases.org]

  • Weismann Netter Syndrome

    Morphine augmented cholescintigraphy in the diagnosis of acute cholecystitis. AJR Am J Roentgenol 1986 ; 147:1177-1179.[pubs.rsna.org] Taybi H, Lachman RS (1990) Radiology of syndromes, metabolic disorders and skeletal dyslasias 3rd edn. Year Book. Chicago, p 488 Google Scholar 35.[link.springer.com] The cause of the condition is unknown, but frequent familial cases suggest a genetic defect with autosomal dominant inheritance.[ncbi.nlm.nih.gov]

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