Abstract: SA-PO759
Multiple Unilateral Subcapsular Cortical Hemorrhagic (MUCH) Cystic Disease of the Kidney: First Case in Brazil of a Possible New Clinical Entity of Unknown Etiology
Session Information
- Genetic Diseases: Cystic - Genetic Analysis and Extrarenal Manifestations
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
Authors
- Pascoal, Pedro Guimaraes, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Thomé, Gustavo Gomes, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Asnis Schuchmann, Renata, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Sartori Pacini, Gabriel, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Wolffenbüttel, Ana, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Veronese, Francisco Veríssimo, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Barros, Elvino, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Karohl, Cristina, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
- Wolffenbuttel, Luciano, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
Introduction
The occurrence of MUCH Cystic Disease of the Kidney was described in 14 patients from the USA, France, Canada and Japan by Yoshida et al. in 2019. We describe the first similar case in Brazil.
Case Description
A 36-year-old hypertensive Brazilian man was referred to our Nephrology Clinic due to nephrotic syndrome (NS) along with acute kidney injury requiring dialysis. An extensive investigation of systemic diseases associated with NS (viral serologies, syphilis, autoimmune diseases and neoplasms) was negative. Abdominal MRI showed multiple subcapsular cortical hemorrhagic cysts in the left kidney with normal right kidney. The cysts measured <1cm on average, the biggest one 2.5cm. The signal was hyperintense on T1 and hypointense on T2-weighted MRI, suggesting hemorrhagic content. Biopsy of the right kidney revealed focal segmental glomerulosclerosis (FSGS), tip lesion variation, added to acute tubular necrosis in recovery phase. Complete remission of NS and recovery of renal function were achieved after 8 weeks of immunosuppressive treatment.
Discussion
Yoshida et al described 14 cases with distinctive renal image findings, similar to the presented. No patients had positive family history of kidney disease. 6 of them underwent genetic evaluation and results were negative for renal cystic disease. The characteristics of the cysts (unilateral, subcapsular with hemorrhagic content) suggest a different etiology from that of the classic APKD1/2, ARKD or medullary cystic kidney disease. Whole genome sequencing is currently being processed. None of the patients previously described had NS nor FSGS, suggesting a non-causal association. These clinical and radiological findings might be features of a new non-inherited renal cystic disease.