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endoplasmic reticulum storage diseases

Monday 6 August 2007

Examples

- hereditary hypofibrinogenemia (primary hypofibrinogenemia)
- α1-antitrypsin deficiency

NB: α1-antitrypsin deficiency and familial hypofibrinogenemia with hepatocellular fibrinogen accumulation are examples of a plasma deficiency due to failure of hepatic protein secretion.

Localization

- hepatic endoplasmic reticulum storage diseases

References

- Rubbia-Brandt L, Neerman-Arbez M, Rougemont AL, Male PJ, Spahr L. Fibrinogen gamma375 arg—>trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis. Am J Surg Pathol. 2006 Jul;30(7):906-11. PMID: 16819336