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Cystic, inherited & renal tumours flashcards

20 high-yield MRCP Part 1 cards from the Intellect Medicos Nephrology course. Try to answer each question before you open it — then study them properly with spaced repetition, which brings each card back just before you would forget it.

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1. ADPKD is caused by mutations in PKD1 on chromosome ______ (more severe disease) or PKD2 on chromosome 4.

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   16

   Why? PKD1 encodes polycystin-1 and accounts for most cases; PKD2 (polycystin-2) gives milder, later disease. ADPKD is the commonest inherited kidney disease.

2. ADPKD is caused by mutations in PKD1 on chromosome 16 (more severe disease) or PKD2 on chromosome ______.

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   4

   Why? PKD1 encodes polycystin-1 and accounts for most cases; PKD2 (polycystin-2) gives milder, later disease. ADPKD is the commonest inherited kidney disease.

3. What is the most common extra-renal manifestation of ADPKD?

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   Liver cysts.

   Why? Other associations: intracranial berry aneurysms (subarachnoid haemorrhage), mitral valve prolapse, aortic root dilatation, pancreatic cysts and colonic diverticula.

4. What is the first-line treatment for hypertension in ADPKD?

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   An ACE inhibitor or ARB.

   Why? Hypertension is often the earliest feature and is driven by RAAS activation from expanding cysts.

5. What is the mechanism of tolvaptan in ADPKD, and which patients qualify under NICE TA358?

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   Vasopressin V2 receptor antagonist; adults with CKD stage 2–3 at the start of treatment and evidence of rapidly progressing disease.

   Why? Vasopressin drives cyst growth via cAMP; blocking V2 slows cyst growth and eGFR decline.

6. Autosomal recessive polycystic kidney disease: which gene is mutated, and which liver condition is strongly associated?

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   PKHD1 (fibrocystin) on chromosome 6; congenital hepatic fibrosis.

   Why? It presents in infancy with large, smooth kidneys (small uniform collecting-duct cysts) and portal hypertension. Severe cases cause oligohydramnios and Potter sequence.

7. Classic Alport syndrome: which gene is mutated and what is the inheritance?

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   COL4A5 (α5 chain of type IV collagen); X-linked.

   Why? Males are severely affected (progressive CKD, sensorineural deafness, eye signs); females are usually milder. Rarer autosomal forms involve COL4A3/COL4A4.

8. What is the classic eye sign of Alport syndrome?

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   Anterior lenticonus (also dot-and-fleck retinopathy).

   Why? Type IV collagen in the lens capsule is abnormal, so the lens bulges forward. The same collagen defect affects the cochlea and GBM.

9. What is the electron microscopy appearance of the GBM in Alport syndrome?

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   Irregular thinning and thickening with splitting of the lamina densa — 'basket-weave' appearance.

   Why? Light microscopy is normal early and later shows FSGS. Treatment is ACEi to slow progression; transplantation for end-stage disease.

10. A patient has isolated persistent microscopic haematuria, normal renal function, normal hearing and a uniformly thin GBM on biopsy. What is the diagnosis?

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    Thin basement membrane nephropathy (benign familial haematuria).

    Why? Unlike Alport syndrome, there is no deafness, eye disease or progressive CKD.

11. Fabry disease: which enzyme is deficient and what is the inheritance?

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    α-galactosidase A (GLA gene); X-linked.

    Why? Globotriaosylceramide accumulates, causing painful acroparaesthesia, angiokeratomas, hypohidrosis, corneal verticillata, LVH, stroke and proteinuric CKD.

12. What is the specific treatment for Fabry disease?

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    Enzyme replacement therapy (agalsidase alfa or beta); migalastat (an oral chaperone) for amenable mutations.

    Why? Early treatment can stabilise renal and cardiac involvement.

13. What is the classic IVU appearance of medullary sponge kidney?

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    'Paintbrush' (bouquet-of-flowers) streaking of the papillae from dilated collecting ducts.

    Why? Urinary stasis and hypercalciuria cause recurrent calcium stones, nephrocalcinosis, distal RTA and UTIs.

14. Name three causes of renal papillary necrosis.

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    Any three of: sickle cell disease, pyelonephritis, analgesic (NSAID) abuse, diabetes mellitus, cirrhosis, alcoholism, renal TB, transplant rejection, renal vein thrombosis, vasculitis.

    Why? These cause ischaemia of the papillae, which slough off and can obstruct the ureter (colic, haematuria). IVU shows a 'ring sign'.

15. In vesicoureteric reflux, the gold-standard diagnostic test is a ______, and renal scarring is assessed with a DMSA scan.

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    micturating cystourethrogram (MCUG)

    Why? Ultrasound is the first-line screen. Low-grade reflux is managed with prompt UTI treatment ± antibiotic prophylaxis in children; high-grade or recurrent infection may need surgery.

16. In vesicoureteric reflux, the gold-standard diagnostic test is a micturating cystourethrogram (MCUG), and renal scarring is assessed with a ______.

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    DMSA scan

    Why? Ultrasound is the first-line screen. Low-grade reflux is managed with prompt UTI treatment ± antibiotic prophylaxis in children; high-grade or recurrent infection may need surgery.

17. Which tumour suppressor gene is linked to clear cell renal cell carcinoma?

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    VHL (von Hippel–Lindau), on chromosome 3p.

    Why? Loss of VHL stabilises HIF, driving VEGF and EPO. Other risk factors: smoking, obesity, hypertension, tuberous sclerosis, ADPKD/acquired cystic disease on dialysis.

18. A man with renal cell carcinoma has raised ALP, prolonged PT and hepatosplenomegaly but no liver metastases. What is this called?

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    Stauffer syndrome.

    Why? It is a paraneoplastic hepatic dysfunction that resolves after nephrectomy. Other RCC paraneoplastic effects: polycythaemia (EPO), hypercalcaemia (PTHrP), hypertension (renin).

19. Name a drug class used for metastatic renal cell carcinoma.

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    Tyrosine kinase inhibitors (e.g. sunitinib, pazopanib) or immune checkpoint inhibitors (e.g. nivolumab, anti-PD-1); mTOR inhibitors (everolimus) later.

    Why? RCC is resistant to conventional chemotherapy. Localised T1 disease is treated by partial or radical nephrectomy.

20. Which gene and chromosome are associated with Wilms tumour (nephroblastoma)?

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    WT1 on chromosome 11p13.

    Why? Associated syndromes: WAGR (Wilms, aniridia, genitourinary anomalies, intellectual disability) and Beckwith–Wiedemann (11p15). It presents as a painless abdominal mass in young children.