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Familial Hypercholanemia

Hereditary Hypercholanemia


Presentation

  • Recognize the basic patterns of liver injury through an algorithmic approach and establish diagnosis by a pattern-based visual index present at the beginning of the book.[books.google.com]
  • See clear presentations of liver disease through hundreds of detailed, color illustrations. Explore topics further with up-to-date references that direct you to the significant literature.[books.google.com]
  • Confirm each diagnosis by consulting a section, organized by symptoms, that presents the full range of differential diagnoses and treatment options for each specific condition.[books.google.com]
  • The mutation was not present in 190 con-trol chromosomes from Caucasian individuals, 34 controlchromosomes from Amish (non-Lancaster County) individualsor 15 non-transmitted parental chromosomes.[docslide.com.br]
  • Genet. 34:91-96(2003) Cited for: VARIANT FHCA VAL-76; Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[web.expasy.org]
Failure to Thrive
  • Affiliated tissues include liver , and related phenotypes are pruritus and failure to thrive[malacards.org]
  • Fat malabsorption, reflectinglow intestinal bile acid levels, was manifested by failure to thrive,potentially life-threatening vitamin-K dependent coagulopathyand rickets. Symptoms usually responded to treatment withursodeoxycholic acid (UDCA).[docslide.com.br]

Workup

  • Make a comprehensive diagnostic workup with data from ancillary techniques and molecular findings whenever appropriate. Effectively grasp complex topics and streamline decision- making by using extensive tables, graphs, and flowcharts.[books.google.com]
Polyps
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.com]
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.com]
  • This new streamlined edition is now a single volume making it easier to find the treatment information you need.[books.google.com]
  • Brady RO et al. (2006) Emerging strategies for the treatment of hereditary metabolic storage disorders. [ ] 5.[molekulargenetische-diagnostik.de]
  • Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg. 2003 Oct. 13(5):307-11. [Medline].[emedicine.medscape.com]

Prognosis

  • PMID 15456900 Loss of tight junction plaque molecules in breast cancer tissues is associated with a poor prognosis in patients with breast cancer. Martin TA, Watkins G, Mansel RE, Jiang WG. Eur J Cancer. 2004 Dec;40(18):2717-25.[atlasgeneticsoncology.org]

Etiology

  • Oursuccess in elucidating the genetic etiology of FHC highlights thepower of population genetic approaches, in combination withthe annotated human genome sequence, to identify loci andmutations associated with disease.MethodsAffected individuals.[docslide.com.br]

Epidemiology

  • Refsum disease Neonatal adrenoleukodystrophy Zellweger syndrome Synonym(s): - Hereditary hypercholanemia Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Pathophysiology

  • Reinforce your foundation in basic science with the concise Pathophysiology of Therapeutic Targets section. See clear presentations of liver disease through hundreds of detailed, color illustrations.[books.google.com]
  • Molecular physiology and pathophysiology of tight junctions I. Tight junction structure and function: lessons from mutant animals and proteins . Am. J. Physiol. Gastrointest. Liver Physiol. 279 , G250–G254 (2000). 8.[nature.com]
  • PMID: 22089923 Bile acids: chemistry, physiology, and pathophysiology. Monte MJ, Marin JJ, Antelo A, Vazquez-Tato J. World J Gastroenterol. 2009 Feb 21;15(7):804-16. PMID: 19230041[humpath.com]

Prevention

  • This receptor defect prevents ldl binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.[icd10data.com]

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