Polycystic kidney disease
| A | Aneurysm of aortic root | |
| B |
Atherosclerotic aneurysm |
|
| C |
Berry aneurysm |
|
| D |
Cystic medial necrosis |
A physician has been treating a 60 year old patient with renal failure due to polycystic kidney disease. The physician should be specifically concerned about the possible coexistence of which of the following conditions?
| A |
Aneurysm of aortic root |
|
| B |
Atherosclerotic aneurysm |
|
| C |
Berry aneurysm |
|
| D |
Cystic medial necrosis |
Autosomal recessive polycystic kidney disease is characterized by the altered expression of:
| A |
Polycystin |
|
| B |
Nephrocystin |
|
| C |
Uromodulin |
|
| D |
Fibrocystin |
Fibrocystin (polyductin) gene mutation is seen in autosomal recessive polycystic kidney disease.
Note:
- Polycystin mutation is associated with autosomal dominant polycystic kidney disease.
- Nephrocystin is related to nephronophthisis.
- Uromodulin mutation is seen in medullary cystic kidney disease.
| A |
Lung |
|
| B |
Liver |
|
| C |
Pancreas |
|
| D |
Seminal vesicles |
ADPKD is characterized by the presence of bilateral, multiple renal cysts as well as a variety of extra renal manifestations, such as cyst in the liver, bile ducts, pancreatic ducts, seminal vesicles, arachnoid membrane.
Non cystic manifestations associated with it includes intracranial aneurysms, dolichoectasia, aortic root dilation, aneurysm, mitral valve prolapse and abdominal wall hernia.
Ref: Harrison’s Internal Medicine, 18th Edition, Chapter 284 ; Genetic Diseases of The Kidney By Richard P. Lifton, Page 393 ; Hypertension Primer: The Essentials of High Blood Pressure By Joseph L. Izz, 3rd Edition, Page 370 ; Merritt’s Neurology Handbook By Pietro Mazzon, 2nd Edition, Page 370 ; Primary Care Medicine: Office Evaluation and Management of The Adult Patient By Allan H. Gorol, 6th Edition, Page 925
Which of the following is not associated with Adult Polycystic Kidney Disease –
| A |
Autosomal dominant inheritance |
|
| B |
Mutations involving gene affecting cell-cellmatrix interaction |
|
| C |
Intracranial berry aneurysm may be present |
|
| D |
Tricuspid valve prolapse |
Ans. is ‘d’ i.e., Tricuspid valve prolapse
There is a mitral valve prolapse not tricuspid.
IVP of polycystic kidney disease shows:
| A |
Cobra head |
|
| B |
Dropping lilly |
|
| C |
Flower base appearance |
|
| D |
Spider leg deformity |
D i.e. Spider leg deformity
Not true about polycystic kidney disease is ‑
| A |
Autosomal dominant |
|
| B |
Proteinuria <2gm/day |
|
| C |
Leads to CRF |
|
| D |
Decompression of cyst leads to normal renal function |
Ans is ‘d’ ie decompression of cyst leads
True of autosomal dominant polycystic kidney disease I and II respectiely –
| A |
Chromosomes 16 and 5 |
|
| B |
16 and 4 |
|
| C |
11 and 5 |
|
| D |
11 and 4 |
Answer is ‘b’ i.e. 16 and 4
- Three forms of ADPKD have been identified.
- ADPKD-1 – accounts for 85% of cases
– its gene is found on chromosome 16p
- ADPKD-2 – its gene has been mapped to chromosome 4q
– it appears to have a later age of onset of symptoms and renal failure than ADPKD-1
- ADPKD-3 – it has not been mapped to a gene uptill now.
| A |
5% |
|
| B |
10% |
|
| C |
18% |
|
| D |
50% |
Ans. is ‘d’ i.e., 50%
True about adult polycystic kidney disease is all except:
| A |
Autosomal dominant inheritance |
|
| B |
Hypertension is rare |
|
| C |
Can be associated with cysts in liver, lungs and pancreas |
|
| D |
Pyelonephritis is common |
The answer is B (Hypertension is rare):
| A |
Berry Aneurysm in Circle of Willis |
|
| B |
Saccular aneurysms of aorta |
|
| C |
Fusiform aneurysms of aorta |
|
| D |
Leutic aneurysms |
Answer is A (Berry Aneurysm in Circle of Willis):
Intracranial Berry aneurysms are important extrarenal associations of adult polycystic kidney disease – Extra renal anomalies seen in patients with adult polycystic kidney disease.
GIT CNS Cardiac
- Cysts in Liver, Spleen, Pancreas • Intracranial aneurysms • Mitral valve prolapse Q
- Colonic diverticular disease (Berry) • Aortic and tricuspid insufficiency
Cysts may also be seen in the ovary.
March 2005
| A |
X-linked dominant |
|
| B |
X-linked recessive |
|
| C |
Autosomal recessive |
|
| D |
Autosomal dominant |
Ans. D: Autosomal dominant
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders. It is the most frequent genetic cause of renal failure in adults,
It is a multisystemic and progressive disorder characterized by the formation and enlargement of cysts in the kidney and other organs (e.g., liver, pancreas, spleen).
Clinical features usually begin in the third to fourth decade of life, but cysts may be detectable in childhood and in utero.
Some other autosomal dominant disorders:
- Huntington chorea
- Neurofibromatosis
- Myotonic dystrophy
- Hereditary spherocytosis
- Marfan syndrome
- Osteogenesi imperfect
- Achondroplasia
| A | Kidneys are enlarged in size | |
| B |
The presentation is unilateral |
|
| C |
Intracranial aneurysms may be associated |
|
| D |
Typically manifests in the 3rd decade |
Ans. The presentation is unilateral
Feature(s) of Adult polycystic kidney disease is/are:
| A |
Renal enlargement |
|
| B |
Small kidney |
|
| C |
Spider leg deformity on intravenous urography |
|
| D |
Ultrasound shows multiple cysts |
Answer- A, C, D, Renal enlargement (C) Spider leg deformity on intravenous urography (D) Ultrasound shows multiple cysts
- ADPKD is characterized by the progressive bilateral formation of renal crisis.
- Inhieritence- autosomal dominant
- Characterized by multiple expanding cysts of both kidneys.
- In gross appearance, the kidneys are bilaterally enlarged.
- The pain may result from renal cyst infection, hemorrhage, or nephrolithiasis.
- ‘Intravenous urography polycystic kidney disease: The spider legs, deformity of the calyces.
| A |
Can be diagnosed in utero by USG |
|
| B |
Hypertension develops in late stages of the disease |
|
| C |
May proceed to renal failure before preschool age |
|
| D |
Enlargement of kidney |
Answer- A,Can be diagnosed in utero by USG C,May proceed to renal failure before preschool age D,Enlargement of kidney
- The presentation in Polycystic disease of kidney is characteristically bilateral
- The bilateral enlargement can hardly be mistaken on routine examination
- USG and CT show multiple cysts in both kidneys
- The disease may present at any age but the most common age ofpresentation is in the 3rd or 4th decade.
- Both the kidney are grossly enlarged and situated with multiple cysts.
- Childhood polycystic kidney disease has autosomal recessive inheritance.
| A |
Many patients may be asymptomatic till 3rd or 4th decade |
|
| B |
Pancreatic cyst |
|
| C |
Associated with hypertension |
|
| D |
Subarachnoid hemorrhage is most common extrarenal complication |
Answer- D. Subarachnoid hemorrhage is most common extrarenal complication
ADPKD is characterized by the progressive bilateral formation of renal cysts.
Inheritance- autosomal dominant
Characterized by multiple expanding cysts of both kidneys.
In gross appearance, the kidneys are bilaterally enlarged.
The pain may result from renal cyst infection, hemorrhage, or nephrolithiasis.
‘Intravenous urography polycystic kidney disease: The spider legs, deformity of the calyces
Focal renal cysts are typically detected in affected subjects before 30 years of age.
Complications-
Hematuria, flank pain, urinary tract infection, renal stones, hypertension
