HERMANSKY-PUDLAK SYNDROME AND GRANULOMATOUS BOWEL INFLAMMATION - REVIEW ARTICLE AND CASE REPORT
Hermansky-Pudlak syndrome (HPS) is a very rare genetically and phenotypically heterogeneous multisystemic disorder. It is mainly caused by impaired trafficking to lysosome-related organelles. Eleven genetic subtypes of HPS are currently recognised. All subtypes share the common phenotypic features o...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
The Society for Children with Metabolic Disorders,
2022-11-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Hermansky-Pudlak syndrome (HPS) is a very rare genetically and phenotypically heterogeneous multisystemic disorder. It is mainly caused by impaired trafficking to lysosome-related organelles. Eleven genetic subtypes of HPS are currently recognised. All subtypes share the common phenotypic features of oculocutaneous albinism and a bleeding diathesis due to thrombocyte dysfunction. Accumulation of ceroid lipofuscin in the reticuloendothelial system of different organs is also common. In some subtypes of HPS, especially in HPS-1 and HPS-4, Crohn's disease - like granulomatous bowel disease can develop. In this article, the only case of a girl with HPS-1 and granulomatous bowel disease diagnosed in Slovenia is presented. She has colitis of the small and large bowel, with clinical, endoscopic, and histopathological characteristics of Crohn's disease. |
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| Item Description: | 1318-4423 2712-3960 10.38031/slovpediatr-2022-3-05en |