This document provides definitions and overview of various cystic kidney diseases including simple cysts, autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), acquired cystic kidney disease, Alport's syndrome, medullary sponge kidney, medullary cystic kidney disease, and renal phacomatosis associated with tuberous sclerosis and Von Hippel-Lindau disease. It describes the clinical features, pathogenesis, diagnosis, and management of these conditions.

1. By:
Dr./ SAHAR H. MOSTAFA
ELMATARIA TEACHING HOSPITAL
CAIRO-EGYPT
DECEMBER, 2016

2.  ADPKD: autosomal dominant
polycystic kidney disease
 ARPKD: autosomal recessive
polycystic kidney disease
 C.D.: collecting duct
 CKD: cystic kidney disease
 CRF: chronic renal failure
 DCT: distal convoluted tubule
 ESRD: end-stage renal disease
 FN: familial nephronophthisis
 GBM: glomerular basement
membrane
 GN: glomerulonephritis
 IN: interstitial nephritis
 MCKD: medullary cystic kidney
disease
 MSK: medullary sponge kidney
 NS: nephrotic syndrome
 PCT: proximal convoluted
tubule
 RCC: renal cell carcinoma
 RRT: renal replacement
therapy
 TSc: tuberous sclerosis
 UTI: urinary tract infection
 VHL: Von Hippel-Lindau

3. OVERVIEW:
 Simple cysts
 Autosomal dominant polycystic kidney(ADPKD)
 Autosomal recessive polycystic kidney(ARPKD)
 Acquired cystic kidney disease(ACKD)
 Alport’s syndrome
 Medullary sponge kidney(MSK)
 Medullary cystic kidney disease(MCKD)
 Renal phacomatosis:Tuberous sclerosis(TSc) and
Von Hippel-Lindau disease(VHL)

4.  Solitary or multiple, fluid-filled
 Cysts develop from any part of nephron, usually cortical
 Incidental finding on U/S or IVU
 Incidence:
o 2%patients < 50 Ys old
o 11%patients 50-70 Ys old
o >20%elderly patients
 Usually not loculated and tend to bulge out from renal
surface
 May grow to considerable size(>10cm)
 Usually harmless
 Occasionally require percutaneous drainage; because of
persistent loin pain

6.  Incidence: 1: 1000
 Genes:
o PKD 1 gene(86%): on chromosome 16
o PKD 2 gene(10%): on chromosome 4
 AD, yet some sporadic cases are commonly seen
 Pathophysiology:
o Early ↑ of Plasma ADH, to compensate for ↓ concentrating
ability hypertension and renal insufficiency
o Cysts development induce renal ischemia and  + RAS 
hypertension
o ↑ Angiogenesis(fragile vessels across cyst walls) rupture
Pain ±hematuria

7.  Cysts develop from all segments of nephron(including
Bowman’s capsule), during the teenage Ys, presentation is
in 4th or 5th decades
Diagnostic Criteria for ADPKD
2 Cysts (unilateral/or/
bilateral)
< 30 Ys old
2 Cysts(in each kidney) 30-59 Ys old
4 Cysts(in each kidney) > 60 Ys old

8.  Clinical Features:
o Asymptomatic(~1/3)
o Abdominal/Loin Pain or Mass
o Hypertension
o UTI
o Renal calculi(10%)
o Macroscopic hematuria
o Not all patients(~1/3), develop ESRD  onset of CRF varies
widely:25-60 Ys
 Common Associations:
o Liver cysts(70%), hepatic fibrosis(rare)
o Pancreatic Cysts(10%)
o Berry Aneurysms(>20% in +ve F.H., 5% in –ve F.H.), 4% risk of
rupture if size >10mm, do: MRA every 3 Ys
o MVP, or A.I.
o Anemia of CRF/or Polycythemia due to ↑ erythropoeitin activity
o Diverticular disease
 Increase incidence of malignancy

9. No strategies to prevent formation and progression of cysts;
the aim is instead at: monitoring for & treating
complications, as well as providing appropriate couselling
 Treatment of hypertension(to ≤ 125/75mmHg): ACE-Is, ARBs
 Treatment of UTI: Lipophilic Antibiotics with cyst-penetrating
ability(ciprofloxacin, trimethoprim, clindamycin, vancomycin,
clotrimazole)
 Treatment of painful cyst:
o Cyst fluid aspiration/drainage(U/S-guided)
o Cyst de-roofing: Excision of outer wall(Fibreoptic-guided/open
surgery)
o Ethanol-induced sclerosis
 Treatment of enlarged kidney:
o Avoid tight corsets
o Avoid wearing belts and seat belts
o Avoid playing contact sports

10.  AR, chromosome 6
 Genes:
o Fibrocystin
o Polyductin
 Cysts develop from DCT and CDs
 Incidence: 1: 10,000 births
 ESRD usually develops early in childhood; sometimes it
may be delayed to 20 Ys of age or rarely, may never occur
 Poor prognosis
 Genetic counseling

11.  Clinical presentation:
 Bilateral abdominal masses in infancy
 Polyurea
 Enuresis
 Hyponatremia
 Hyperchloremic metabolic acidosis
 Hepatic fibrosis in all cases, progressing to portal
hypertension
 Hypertension
 Pulmonary hypoplasia(major cause of death in 1st year
of life)

13. Sagittal sonogram: multiple microcysts in left
kidney, not communicating with each other

14.  In the rudimentary kidneys of patients with ESRD,
especially the scarred kidneys
 Cysts usually develop from PCT/DCT
 Incidence:
o >5% At onset of RRT
o >80% After 10 Ys of dialysis
 Asymptomatic
 Cyst hemorrhage: Flank pain, anemia, hematuria
 Risk Factors:
o Duration of ESRD
o Male gender
o Black race
o Chronic hypokalemia

15.  Malignant change(RCC), with an annual incidence
of 1%, less often to be metastatic, but with high
5-year mortality rate
 Renal U/S, CT, MRI:
 Demonstration of cysts in Kidneys which are not
enlarged
 Suspicious cyst findings for RCC:
 Septa formation
 Solid material
 Contrast enhancement

17.  Incidence: 1: 5000
 X-Linked, dominant
 Absence of alpha-5 chain of type IV collagen
 Abnormal GBM(basket-weave appearance)
 Absent Good-Pasture Ag in GBM; predisposition
to anti-GBM GN after transplantation(graft
failure)

18.  Deafness(sensorineural, bilateral)
 Microscopic hematuria, proteinuria
 NS(30%)
 CRF, in all affected males(not in female carriers)
 Ocular abnormalities in 40%(Lenticonus, retinal
flecks, cataract
 Macro thrombocytopenia
 Leiomyomata(rare)
 D.D. with benign familial hematuria(thin
membrane nephropathy)

19.  Sporadic
 Benign course: less likely to progress to ESRD
 Cysts develop from medullary and papillary CDs
 The ectatic C.Ds may calcify Classical
Nephrocalcinosis(50%)
 Upper UTI and renal calculi may be present
 Microscopic hematuria and hypercalciuria
 ± Hyperparathyroidism

22.  They are 2 different terms used for 2 similar diseases;
which differ only in their age of onset and mode of
inheritance
 Cysts occur in medullary DCT
 Patients have:
 Tubulo-IN
 Salt-wasting
 Progressive CRF

23. FN MCKD
AR AD, uncommon
ESRD in childhood or before 20 Ys
of age(15%)
ESRD in 3rd,4th decade
Extrarenal manifestations:
a. Retinitis pigmentosa(10-15%)
b. Cerebellar ataxia
c. Liver fibrosis
d. Nocturnal Eneuresis
NOT associated with extrarenal
manifestations
Hypertension is present

24.  AD, chromosome 9 or 16
 Multiple Hamartomas: Skin, CNS, eyes, kidneys and heart
 Incidence: 1: 10,000
 Clinical findings:
 Intracranial tumors/calcifications:
 Epilepsy: 80%
 MR: 50%
 Renal cysts/? RCC(5%)
 Skin lesions:
o Shagreen patches
o Ash-leaf spots
o Adenoma Sebaceum(angiofibromas)

25. a: Ash-leaf macule
b: Adenoma Sebaceum
c: Peri-ungual fibroma
d: Shagreen patches

26.  AD, chromosome 3
 Cysts in kidneys are pre-malignant(>50%);
bilateral nephrectomy is often necessary
 Spino-cerebellar hemangioblastoma
 Retinal angiomas
 Pancreatic cysts, islet cell tumors
 Pheochromocytoma

27. Left: Multiple renal tumors and cysts
Right: Cut surface of the same kidney

29. A 55-Y-old man undergoes IVP, as part of work-up of
HTN. A 3-cm solitary radiolucent mass is noted in
the left kidney; the study otherwise is normal. The
man complains of no symptoms referable to the
urinary tract and examination of urinary sediment
is within normal limits.
Which of the following studies should be performed
next?
a. Repeat IVP in 6-Months
b. Early-morning urine collections for cytology (3
samples)
c. Selective renal arteriography
d. Renal U/S
e. CT scanning with contrast enhancement of the
left kidney

30. A 55-Y-old man undergoes IVP, as part of work-up of HTN. A 3-cm
solitary radiolucent mass is noted in the left kidney; the study
otherwise is normal. The man complains of no symptoms
referable to the urinary tract and examination of urinary
sediment is within normal limits.
Which of the following studies should be performed next?
a. Repeat IVP in 6-Months
b. Early-morning urine collections for cytology (3
samples)
c. Selective renal arteriography
d. Renal U/S {to differentiate simple cyst from
RCC}
e. CT scanning with contrast enhancement of the left
kidney

31. A 49-Y-old woman with known PKD and serum creatinine
of 3.0 mg/dl, comes to the ER because of abdominal
and flank pain. She passed blood-tinged urine the day
before. Examination revealed a BP of 180/105, pulse
of 92 bpm and a T o of 38 o C. Large bilateral upper
quadrant masses are palpated; the right is somewhat
tender. Bowel sounds are normal. Plain film of
abdomen reveals large upper quadrant masses
bilaterally. A few areas in the upper pole of the right
kidney have complex echoes and no solid masses are
seen.
Urine analysis shows 1+ protein, RBCs > 100/HPF
Which of the following is the most likely cause of the
patient’s condition?
a. Renal infarction
b. UTI
c. Renal cell carcinoma(RCC)
d. Hemorrhage into a renal cyst
e. Arteriovenous(AV) malformations

32. A 49-Y-old woman with known PKD and serum creatinine of
3.0 mg/dl, comes to the ER because of abdominal and flank
pain. She passed blood-tinged urine the day before.
Examination revealed a BP of 180/105, pulse of 92 bpm and
a T o of 38 o C. Large bilateral upper quadrant masses are
palpated; the right is somewhat tender. Bowel sounds are
normal. Plain film of abdomen reveals large upper quadrant
masses bilaterally. A few areas in the upper pole of the right
kidney have complex echoes and no solid masses are seen.
Urine analysis shows 1+ protein, RBCs > 100/HPF
Which of the following is the most likely cause of the patient’s
condition?
a. Renal infarction
b. UTI
c. Renal cell carcinoma(RCC)
d. Hemorrhage into a renal cyst {pain+echoes+RBCs}
e. Arteriovenous(AV) malformations

33. A 47-Y-old man has an excretory urogram for
investigation of microscopic hematuria, discovered
on a routine urine analysis. He is apparently healthy
and entirely without complaints. Kidneys are of
normal size, with calcification and collection of dye
in dilated medullary structures. Some E-, BUN,
creatinine, Ca+, P- and uric acid are normal.
Creatinine clearance is 103 ml/min. Urine analysis
reveals rare RBCs and no protein.
Which of the following is/are true of this patient?
a. There is significant chance that symptomatic renal
stones will develop
b. There is significant chance that he has hypercalciuria
c. He is likely to have impaired urine concentrating
ability
d. His condition is likely to progress to chronic ESRD
e. His children have a 50% chance of experiencing the
same condition

34. A 47-Y-old man has an excretory urogram for
investigation of microscopic hematuria, discovered
on a routine urine analysis. He is apparently healthy
and entirely without complaints. Kidneys are of
normal size, with calcification and collection of dye
in dilated medullary structures. Some E-, BUN,
creatinine, Ca+, P- and uric acid are normal.
Creatinine clearance is 103 ml/min. Urine analysis
reveals rare RBCs and no protein
All of the following is true of this patient, except:
a. There is significant chance that symptomatic renal
stones will develop
b. There is significant chance that he has hypercalciuria
c. He is likely to have impaired urine concentrating
ability
d. His condition is less likely to progress to chronic ESRD
e. His children have a 50% chance of experiencing the
same condition {MSK is a congenital, not hereditary}

35. A 60-Y-old man with ESRD from chronic GN,
presents with acute onset of gross hematuria
and mild flank pain. He has been on dialysis for
4 Ys and his course has otherwise been
uneventful. He was afebrile and the hematuria
resolved without intervention.
Which of the following is most appropriate now?
a. Renal U/S
b. CT
c. Angiography
d. IVP
e. None of the above

36. A 60-Y-old man with ESRD from chronic GN,
presents with acute onset of gross hematuria
and mild flank pain. He has been on dialysis for
4 Ys and his course has otherwise been
uneventful. He was afebrile and the hematuria
resolved without intervention.
Which of the following is most appropriate now?
a. Renal U/S
b. CT {ACKD has 10% incidence of malignancy, CT will be
useful in diagnosis and also for staging}
c. Angiography
d. IVP
e. None of the above