Poliquistosis renal infantil autosómica recesiva con disgenesia biliar. A propósito de un caso
| Autor: | Cristian Ortiz Villalón, María Pilar Díaz Fernández, Consuelo Calabuig Crespo, Vicente Sabater Marco, Rosa Barbella Aponte |
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| Rok vydání: | 2010 |
| Předmět: |
Pathology
medicine.medical_specialty PKD1 business.industry Genetic disorder Autopsy Oligohydramnios urologic and male genital diseases medicine.disease female genital diseases and pregnancy complications Autosomal Recessive Polycystic Kidney Disease Pathology and Forensic Medicine Dysgenesis Medicine Congenital hepatic fibrosis business Hepatic fibrosis |
| Zdroj: | Revista Española de Patología. 43:39-42 |
| ISSN: | 1699-8855 |
| DOI: | 10.1016/j.patol.2009.07.003 |
| Popis: | Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder caused by a mutation in the PKD1 gene, which codes for protein polycystin 1, mapped on chromosome 6p13.3. ARPKD is characterised by the formation of cysts from coalescing dilated renal collecting ducts coexisting with congenital hepatic fibrosis secondary to biliar dysgenesis. Case report: We report the autopsy findings in a 2 h old, term female infant with severe oligohydramnios. The pregnancy had not been monitored, although a previous ultrasonography revealed foetal kidney enlargement. The most significant macroscopic findings were sponge kidneys composed of multiple small cysts and focal hepatic fibrosis. Microscopically a diagnosis of autosomal recessive polycystic kidney disease with biliary dysgenesis was made. Discussion: The clinical and pathological findings are correlated and the most important necropsy findings are described. The relevant literature is reviewed and recent advances in the pathology, genetics, diagnosis, ultrasonography, prevention and treatment of ARPKD are discussed. |
| Databáze: | OpenAIRE |
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