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Inherited Kidney Disease

A. Autosomal dominant polycystic kidney disease (ADPKD)
Prevalence: 1:1000, Genes on chromosomes 16 (PKD1) and 4 (PKD2). 
Common Clinical Features
  1. Flank pain and vague abdominal discomfort
  2. Acute loin pain or renal colic due to hemorrhage into the cysts.
  3. Hypertension may appear after the age of 20 years.
  4. Nocturia, hematuria and urinary infection appear in the third or fourth decade.
  5. CRF can occurs but with enlarge kidney size.
  6. Nephrolithiasis commonly due to calcium oxalate may be there.
  7. Cysts may be there in liver, pancreas, and spleen. Cysts are not present in lungs. (AIIMS May 10)
  8. Intracranial (berry) aneurysms also may be present which can cause SAH.
  9. Azotemia is usually progressive.
  10. Commonest extra renal manifestation is colonic diverticulosis (AIPG 10)
  11. Colonic diverticulae are common.
  12. Diagnosis is by ultrasound.
Controversy about most common extra renal feature in ADPKD
  1. In (Ref. Hari. 18th ed., Pg - 1196), There is no mention of occurrence of colonic diverticulosis in ADPKD.
  2. In (Ref. Hari. 18th ed., Pg - 1563) it is clearly mentioned that most common extra renal feature is colonic diverticulosis.
  3. But in 17th & 18th edition above said line is not there and both these edition don’t mention clearly that which is the most common extra renal feature. However both mention that hepatic cyst is very common in ADPKD.
  4. Hence liver cyst should be the best answer to the question about most common extra renal feature of ADPKD!!!.
  1. Treating BP is important to prevent cardiovascular complication and SAH.
  2. Treat infections, dialysis or transplantation for ESRF, genetic counseling.
  3. Pain may be helped by laparoscopic cyst removal or nephrectomy.
B. Medullary cystic disease
  1. It manifests with polyuria, acidosis, and salt wasting, which precedes slowly progressive renal failure.
  2. Cyst are in medulla
  3. Autosomal dominant
  4. Most patients with MCKD2 and the genetically related familial juvenile hyperuricemic nephropathy also have severe hyperuricemia and precocious onset of gout. (Ref. Hari. 18th ed., Pg-2359)
  1. Ultrasound,
  2. CT (more sensitive) (LQ 2012)
  3. Confirmed by mutation analysis of uromodulin gene (UMOD) (Ref. Hari. 18th ed., Pg-2359)
Treatment: Supportive, Transplant
C. Medullary sponge kidney (Ref. Hari. 18th ed., Pg - 2360)
Medullary sponge kidney is a disorder, usually sporadic, or AD, occur due to dilatation of terminal part of collecting ducts (duct of Balani) that present as hematuria, urinary infection, distal renal tubular acidosis (RTA), and/or nephrolithiasis in the  fourth and fifth decades.
Diagnosis IVP
Treatment: Symptomatic
D. Alport Syndrome
Prevalence: 1:5000. Variable inheritance (85% are x-linked). (UPSC 2013). The affected genes code for type IV collagen molecules.
Pathology: Thickened GBM with 'splitting'. The Good pasture’s antigen is missing (hence risk of anti GBM glomerulonephritis post-renal transplant).
Sign: Hematuric nephritis, sensorineural deafness, and progressive renal failure.
Some have lenticonus: bulging of lens capsule seen on slit-lamp examination.
  1. Family history of nephritis of unexplained haematuria.
  2. Bilateral sensorineural hearing loss
  3. A mutation in COL4An .
  4. Widespread GBM ultrastructural abnormalities, (thickening, thinning and splitting).
  5. Ocular lesions including anterior lenticonus, posterior subcapsular cataract, posterior polymorphous dystrophy and retinal flecks.
  6. Gradual progression to ESRD in the index case of at least two family members.
  7. Macrothrombocytopenia or granulocytic inclusions.
  8. Diffuse leiomyomatosis of esophagus or female genitalia, or both.
E. Hyperoxaluria
  1. Primary hyperoxaluria is an autosomal recessive inherited metabolism due to an enzyme defect. 
  2. Secondary hyperoxaluria is due to intake eg rhubarb, spinach, tea intestinal reabsorption due to ileal disease (Crohn’s, ileal bypass), short bowel syndrome, low Ca2+ intake. 
  3. Signs: Oxalate renal stones nephrocalcinosis, progressive renal failure, cardiac conduction defect arterial disease (oxalate crystallization), osteodystrophy. 
  4. Treatment
    1. High fluid intake to prevent calculi (keep urine output 3L day), reduced dietary oxalate, calcium supplements (binds oxalate in the gut so reduces absorption). 
    2. If these do not work pyridoxine (vitamin B6) is used to reduce endogenous oxalate production (Side Effect: pyridoxine in high doses can cause peripheral neuropathy). 
    3. Magnesium or cholestyramine are also used to oxalate absorption. 
    4. Hepatic transplantation may be curative in primary hyperoxaluria, and may be combined with renal transplant.
F. Cystinuria
  1. The commonest aminoaciduria, causing tubular reabsorption of the dibasic amino acids Cystine, Arginine and Lysine, ornithine due to an autosomal recessive defect.
  2. Features: Manifests with cystine renal stones.
  3. Treatment: Fluid intake to keep urine output 3 L/day; urine alkalinization with potassium citrate (solubility of cystine).
  4. Penicillamine is used, which binds cystine in soluble complexes.
Important Points

Do not confuse this condition with cystinosis where there are no stones.

G. Cystinosis
  1. There is accumulation of cystine in Lysosomes due to an autosomal recessive defect.
  2. Cystine deposits cause Fanconi syndrome, visual impairment and hypothyroidism, with progression to ESRF <10 yrs.
  3. Renal cystinosis does not recur after transplant; extra-renal disease progresses.

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