Autosomal dominant polycystic kidney disease is an important cause of end stage renal failure. Rarely, these patients may present with hemorrhagic shock caused by rupture of the renal cyst. The aim of this study was to report a rare case of a patient who arrived at the emergency department with autosomal dominant polycystic kidney disease presenting with acute abdominal pain and hemorrhagic shock. A 58-year-old male with chronic renal failure was admitted to the emergency department with acute abdominal pain and hemorrhagic shock. The patient was admitted to the Department of Surgery with diagnosis of acute abdomen and perirenal hematoma. Although the patient was on conservative treatment, his symptoms did not improve and the patient was operated emergently. During exploration, there was bleeding from the right polycystic kidney, which was 30×20 cm in dimension. The patient underwent nephrectomy and drainage of the hematoma, and was discharged on the fifth postoperative day without any problems. Bleeding due to rupture of a cyst in autosomal dominant polycystic kidney disease occurs rarely but it may be life threatening. Although conservative methods are often preferable in treatment, surgery can be life saving for patients in whom the clinical situation does not improve.
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http://dx.doi.org/10.5152/UCD.2013.12 | DOI Listing |
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFAdv Biotechnol (Singap)
June 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, Guangdong, 510275, China.
Autosomal dominant polycystic kidney disease (ADPKD) is a dominant genetic disorder caused primarily by mutations in the PKD1 gene, resulting in the formation of numerous cysts and eventually kidney failure. However, there are currently no gene therapy studies aimed at correcting PKD1 gene mutations. In this study, we identified two mutation sites associated with ADPKD, c.
View Article and Find Full Text PDFJ Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFAcad Radiol
January 2025
Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan (T.W.L., C.H.W.); Center of Minimal-Invasive Interventional Radiology, National Taiwan University Hospital, Taipei, Taiwan (C.H.W.); Hepatitis Research Center, National Taiwan University Hospital, Taipei, Taiwan (C.H.W.). Electronic address:
Rationale And Objectives: Individuals with autosomal dominant polycystic kidney disease (ADPKD) can present with diverse renal and extra-renal manifestations. Large vessel anomalies, such as cerebral aneurysms, are potentially fatal extra-renal manifestations. However, limited research has been conducted on cerebral small vessel disease (CSVD).
View Article and Find Full Text PDFCurr Opin Nephrol Hypertens
March 2025
Nephrology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Purpose Of Review: This review highlights the latest findings regarding hypocitraturia in autosomal dominant polycystic kidney disease (ADPKD), from both experimental and clinical studies, exploring the underlying pathophysiology and potential therapeutic approach.
Recent Findings: Experimental studies have shown that the lodging of microcrystals in the tubules can trigger cyst formation and growth in polycystic kidney disease (PKD). ADPKD patients are prone to developing hypocitraturia in early stages, which could predispose to calcium microcrystal formation.
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