MRD515 Presentation: Polycystic Kidney Disease PDF

Polycystic Kidney Disease MRD515 VIDEO PRESENTATION Nurul Nadhirah binti Mohd Fauzi 2023239666 HS2423A  roduction Int Congenital and hereditary renal disorder, characterized by accumulation of fluid-filled...

Polycystic Kidney Disease MRD515 VIDEO PRESENTATION Nurul Nadhirah binti Mohd Fauzi 2023239666 HS2423A  roduction Int Congenital and hereditary renal disorder, characterized by accumulation of fluid-filled cysts in the kidneys and other organs (Paul, 2014) Inherited monogenically heterogenous, that oftenly leads to kidney failure ADPKD ARPKD Mostly affect adults Rarer, sever and presents in Only needs to inherit one copy of childhood or perinatally the defective gene from one A child must inherit two copies of parent to develop the disease the defective gene (one from each parent) Autosomal Dominant ETIOLOGY Mutations in: PKD1 gene (chromosome 16) PKD PKD 1 PKD2 gene (chromosome 4) PKD 2 85% of ADPKD cases 15% of ADPKD cases Encodes protein polycystin 1 (PC1) Encodes protein polycystin 2 PC1: Regulates cell-cell contacts, (PC2) mechanosensor in renal primary cilia, PC2: Intracellular calcium renal tubular differentiation regulation Mutation PKD1 - PC1 not function Mutation PKD2 - milder kidney properly - formation fluid-filled cysts disease with fewer cysts, delayed in kidneys onset of hypertension, longer patiet survival Autosomal Recessive ETIOLOGY Mutations of the PKHD1 gene on chromosome 6p12 and DZIP1L. PKD Characterized by combination of bilateral renal cystic disease and PKHD 1 GENE congenital hepatic fibrosis Produce protein called fibrocystin; crucial for proper development & function of the kidney and other DZIP1L organs Localise on ciliary area Mutations in PKHD1 gene disrupts Mutations in DZIP1L have only been the production of functional identified in small number of fibrocystin, leading to cyst indivuals with moderate ARPKD formation.  Signs and Symptoms ADPKD SIGNS Hypertension SYMPTOMS Hematuria Enlarged kidneys and cysts Pain in lower back, flank, (liver and kidney) abdomen, chest and legs Intracranial aneurysms Frequent headaches Nephrolithiasis Fatigue Early satiety or fullness (Sekine, 2022)  Signs and Symptoms ARPKD SIGNS SYMPTOMS Enlarged kidney Breathing difficulties Swollen abdomen Polyuria Potter’s Syndrome Polydipsia Growth failure Hypertension  Imaging Modalities ULTRASOUND Advantages: Limitations: Preffered initial imaging tool Less effective - monitor disease progression Accessibility, low cost, absence of radiation Accuracy and reproducibility limited exposure, Operator-dependent & lower sensitivity for Prove the presence of PKD with high-sensitivity small cysts (below 1 cm) Age-based criteria improve diagnostic accuracy Less accurate TKV CT SCAN Advantages: Limitations: Higher resolution than U/S Less common for regular monitoring (ionizing Better in monitoring disease progression radiation & potential nephrotoxicity) Identify complex cysts, nephrolithiasis  Imaging Modalities MAGNETIC RESONANCE IMAGING (MRI) Advantages: Limitations: Primary modality for monitoring High cost progression and ESRD Time-consuming High-resolution images with low risk Struggles for patients with of radiation exposure claustrophobia Accurate TKV measurement Source: Kidney Health Australia (Rangan, 2015)  Gold Standard T2-WEIGHTED MRI Non-invasive Detailed visualization of fluid-filled cysts Provides good soft tissue contrast & Autosomal anatomical detail (van Gastel, 2018) Accurate measurement of total kidney Dominant PKD volume (TKV) ; crucial biomarker for disease progression & treatment monitoring Evaluate complications associated with ADPKD (cerebral aneurysm. liver cysts) Have prognostic value  Gold Standard ULTRASOUND Early detection during infancy or prenatally Autosomal Non-invasive Preferable for routine screening Recessive PKD Elimination of ionizing radiation or contrast agents Can detect enlarged, echogenic kidneys even in utero Track disease progression Helps assess liver involvement  Complications Kidney failure Kidney stones - may lead to end-stage - block urine flow renal disease Cardiovascular problem Liver cysts - left ventricular hypertrophy is - PKD can affect liver and lead common due to hypertension to liver dysfunction Cerebral aneurysms UTI - may lead to subarachnoid - infected kidney cysts may hemorrhage if ruptures affect urinary tract  Radiographic Appearances ULTRASOUND MRI Source: Medbullets Source: Wiley Online Library Radiographic Appearances CT SCAN Source: Pubmed Central  Technical Considerations ~ MRI Patient in supine (head towards magnet) Position patient over the spine coil and body coil over the abdomen Tighten body coil using straps Provide pillow under head and cushions under legs Laser beam localiser is centred over level of lower intercostal border Instruct patient to hold their breath PATIENT POSITIONING IMAGING PROTOCOLS T2 HASTE/ T2 TSE CORONAL 4MM Capture images (coronal and axial planes) Angle positioning aids parallel to right and left kidneys Slices adequately cover both kidneys (anterior to posterior) Reduce motion artifacts and patient discomfort Fluid-filled cysts appear bright Technical Considerations ~ Ultrasound Patient in supine. but may need to adjust slightly to left or right to optimize views of kidneys PATIENT Right: anterolateral POSITIONING Left: posterolateral Patient with full bladder for better visualization of lower poles of kidney High frequency transducer- provide better EXPOSURE resolution for superficial structures (3-5 MHz) SETTINGS Doppler capability- assess blood flow and potential complications associated with PKD  Conclusion In conclusion, Polycystic Kidney Disease (PKD) is a genetic condition that causes cysts to grow in the kidneys, potentially leading to kidney enlargement and eventual failure. Early detection through imaging, especially MRI, plays a key role in understanding the severity of the disease. MRI is considered the gold standard for diagnosing PKD Despite some journals mentioned that genetic testing is another gold standard as well, it is an invasive procedure, limited availability and costly. Thus, MRI is more preferable and early intervention can significantly improve patient outcomes.  References Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303; PMCID: PMC6592047 Igarashi, Peter*; Somlo, Stefan† Feature Editor. Genetics and Pathogenesis of Polycystic Kidney Disease. Journal of the American Society of Nephrology 13(9):p 2384-2398, September 2002. | DOI: 10.1097/01.ASN.0000028643.17901.42 What causes ADPKD?. PKD Foundation. (2023, August 10). https://pkdcure.org/what-is-adpkd/what- causes-adpkd/ Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303; PMCID: PMC6592047. Mahboob M, Rout P, Leslie SW, et al. Autosomal Dominant Polycystic Kidney Disease. [Updated 2024 Mar 20]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532934/ Watson, M. L. (1997). Complications of polycystic kidney disease. Kidney International, 51(1), 353–365. https://doi.org/10.1038/ki.1997.44  References Chapman AB, Wei W. Imaging approaches to patients with polycystic kidney disease. Semin Nephrol. 2011 May;31(3):237-44. doi: 10.1016/j.semnephrol.2011.05.003. PMID: 21784272; PMCID: PMC3143364. Rangan GK, Lee VW, Alexander SI, Patel C, Tunnicliffe DJ, Vladica P. KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Screening for Polycystic Kidney Disease. Semin Nephrol. 2015 Nov;35(6):557-564.e6. doi: 10.1016/j.semnephrol.2015.10.004. PMID: 26718159. Utsouthwestern. (n.d.). https://www.utsouthwestern.edu/education/medical- school/departments/radiology/protocols/assets/US%20Renal%20Doppler%20Complete.pdf MRI kidneys (renal) planning: MRI kidneys protocol and indications. mrimaster. (2023, October 6). https://mrimaster.com/plan-mri-kidneys/  Q&A Session THANK YOU!