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CASE 1

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• Case History: A 78-year-old patient presented with history of hypertension and renal failure.

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both kidneys with multiple cysts.

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Ultrasound findings

• Both the kidneys are enlarged in size, multiple cysts. Few of the cysts show calcification at their periphery. Overall echogenicity of both kidneys is little increased.

• No cyst seen in liver and pancreas

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Diagnosis:

• Autosomal dominant polycystic kidney

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WHAT IS Polycystic kidney disease

• is a cystic genetic disorder of the kidneys• PKD or PCKD, also known as polycystic kidney

syndrome

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POTTER CLASSIFICATION

• Type 1: Autosomal recessive polycystic kidney disease (ARPKD) Infantile Polycystic Kidney Disease

• Type 2: Multicystic dysplastic kidney (Multicystic renal dysplasia)

• Type 3: Autosomal dominant polycystic kidney disease (ADPKD) Adult Polycystic Kidney Disease

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Autosomal dominant polycystic kidney disease

• Definition: ADPKD is one of the most common forms of polycystic kidney disease.

• Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The cysts are filled with fluid.

• The progressive expansion of PKD cysts slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure.

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Cause

•+ mutations in the genes PKD1 or PKD2, which encode the proteins polycystin-1 and polycystin-2+ PKD1 being located on the short arm of chromosome 16 (85%) + PKD2 on the long arm of chromosome 4 (15%)

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Pathophysiology• Recent evidence suggests that the primary abnormality

leading to cyst formation is related to defects in primary cillia.

• In the kidney, primary cilia have been found to be present on most cells of the nephron, projecting from the apical surface of the renal epithelium into the tubule lumen.

• The defect of polycystin-1, polycystin-2, and fibrocystin, the proteins associated with ADPKD and ARPKD, within the primary cilia and basal body of renal tubular epithelia and subsequent cilia formation may lead to PKD

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• While it is not known how defects in the primary cilium lead to cyst development, it is thought to possibly be related to disruption of one of the many signaling pathways regulated by the primary cilium, including intracellular calcium, cyclic adenosine monophosphate (cAMP), or planar cell polarity (PCP)…

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In general: - Cysts arise from the nephrons and collecting tubules; microdissection reveals that the cysts communicate directly with the nephrons and collecting tubules. - Islands of normal parenchymal renal tissue are interspaced between the cysts

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Clinical symptoms and signs

• The most common symptoms are pain in the back and the sides (between the ribs and hips), and headaches.

• The dull pain can be temporary or persistent, mild or severe.

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Epidemiology• Mean age at diagnosis: 43 years (neonatal / infantile

onset has been reported)• Present at birth: 1/400 to 1/1,000 babies, and it affects

approximately 400,000 people in the United States. • 0.5 – 1% in population, 8 – 10% in transplanted or

dialysis patients (Siêu âm tổng quát – thầy Quân)• Male : Female = 1:1• Onset of cyst formation:

– 54% in 1st decade– 72% in 2nd decade– 86% in 3rd decade

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Associated with

• Cysts in: liver (25-50%), pancreas (9%)• Aneurysm: saccular "berry" aneurysm of

cerebral arteries (3-13%)• Mitral valve prolapse• Hypertension (50-70%)• Azotemia• Hematuria, proteinuria• Lumbar / abdominal pain

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COMPLICATIONS

• Hypertension (++)• Gross hematuria• Infection (+++)• Kidney stones• Kidney failure: 50% by age 60

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How do we diagnose this disease?

• By Ultrasonography• By X-ray• By CT• By MRI

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Ultrasonography• Multiple cysts typically in both kidneys• The cysts are numerous and fluid-filled, good

through transmission of the sound wave.• Multiple cysts in cortical region• Diffusely echogenic when cysts small (children)• Massive enlargement of the kidneys. • Echogenicity of both kidneys is increased• Normal parenchymal renal • Renal contour poorly demarcated• go to clip

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STANDARD

• The diagnostic criteria for individuals who have a 50 percent risk of developing ADPKD include:

At least two unilateral (cysts in one kidney) or bilateral (cysts in both kidneys) cysts in individuals who are younger than age 30.

At least two cysts in each kidney in individuals who are between 30 and 59 years.

At least four cysts in each kidney in individuals who are 60 years old or older.

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X-ray

• Plain radiographic findings are normal in the early stages of ADPKD

• Enlargement of the kidneys: soft-tissue masses that displace intra-abdominal organs. Renal enlargement is often asymmetrical, normal renal outlines cannot be traced.

• Cysts may calcify in a curvilinear, ringlike, or amorphous manner. The presence of renal calculi may signify urinary tract infection

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• Plain radiograph of the kidney, ureters, and bladder in a 50-year-old woman with autosomal dominant polycystic kidney disease.

• The kidneys are enlarged with multiple curvilinear and ringlike calcifications arising from the renal cyst.

• The surgical clip from renal transplant is seen projected over the left iliac wing.

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• The pelvocaliceal systems demonstrate bilateral, diffuse irregularity and splaying.

• The collecting system may be elongated, distorted, and attenuated. These changes are seen in the image below.

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Computed Tomography

• The cysts in (ADPKD) are fairly well-defined, round or oval masses with low attenuation values similar to those of water

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Unenhanced axial computed tomography scan of the abdomen in a 45-year-old woman with autosomal dominant polycystic

kidney disease. The scan shows numerous cysts of different sizes involving the kidneys, liver, and pancreas

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Contrast-enhanced computed tomography scan in a 45-year-old woman with ADPKD(same patient as in the previous image) clearly demonstrates the cysts in the head of the pancreas

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Magnetic Resonance Imaging

• Renal cysts show a homogeneous, low to intermediate signal intensity on T1-weighted images and a homogeneous, high signal intensity on T2-weighted images.

• Cysts have thin, imperceptible walls. Renal cysts do not enhance with gadolinium-based contrast material.

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and more

• "Swiss cheese" nephrogram = multiple lesions of varying size with smooth margins

• Polycystic kidneys shrink after beginning of renal failure, after renal transplantation, or on chronic hemodialysis

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Differential Diagnosis• Multiple simple cysts

+ less diffuse, + no family history

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• Multicystic dysplastic kidney• (a ) hydronephrotic and dysplastic

kidney with echogenic and undifferentiated parenchyma and multiple dysplastic cortical cysts.

(b) cysts of varying size have no parenchymal outer rim, the lack of a normal collecting system, but some central echogenic dysplastic ‐residual renal parenchyma, differentiation from a severe ureteropelvic junction obstruction (UPJO).

(c ) Contrast enhanced CT (late ‐phase) of a segmental cystic nephroma.

• d) usually associated with abnormal pelvocaliceal system

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• Localized renal cystic disease: (rare)

• involves only one kidney at a time

• The condition is typically nonfamilial, does not cause renal functional impairment and does not require specific management

thaotram

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• Infantile PCKD : usually microscopic cysts < 3mm

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• Von Hippel-Lindau disease + cerebellar hemangioblastoma, + retinal hemangiomas, + occasionally pheochromocytomas

• Acquired uremic cystic disease + kidneys small+ no renal function+ transplant

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The goals of treatment for patients with PKD

• Managing and better controlling the symptoms of the disease.

• Preventing progression of the disease to end-stage kidney disease.

• Enabling the patient to maintain a reasonably good quality of life.

• Prolonging survival

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What we must remember• Meaning age: middle-age• Include many clinical complications:

hypertension, gross hematuria, infection, kidney stones, kidney failure…

• Family history• Multiple marcoscopy cysts in both kidneys,

significantly or unsignificantly• Enlarged in size of both kidneys• Cysts in other organs have to seek• Associate with CT Scanner and other means.

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• Thank you for listening