Internal medicine - nephrology
Topic: cystic kidney diseases
Lecturer: dra. Myrna ngo
CYSTIC DISEASE OF THE KIDNEYS
 Polycystic kidney disease
o ADPKD
 Autosomal Recessive Polycystic Kidney Disease
o ARPKD –Seen in pediatric patients
 Medullary Cystic Diseases
 Medullary Sponge Kidney
AUTOSOMMAL DOMINANT POLYCYSTIC KIDNEY
DISEASE
- Autosommal dominant linked to genes in the
short arm of chromosome 16 and to the long
arm of chromosome 4.
- From birth cysts develop ranging from mm to
com in diameter. These cysts become visible
through UTZ by the age of 25
- Antenatal UTZ between 30 to 35 AOG show
hyperechoic large kidneys and occasional cysts.
- Asymptomatic until 3rd to 4th decade of life
- Polycystic kidney disease cysts may be seen at
the age of 20, but remain asymptomatic till 30s
to 40s.
- Children may have:
o Hematuria
o Hypertension
o Infection
o Renal insufficiency
- Adults: may have chronic flank pain due to
mass effect on the enlarged kidneys.
ADPKD 1
- Have late stage of onset of renal failure than
ADPKD2
ADPKD2
- Accounted for 90% of the cases
- Faster progression to renal failure
EXTRA RENAL MANIFESTATIONS OF ADPKD
 Colonic diverticulum
o weakening of intestinal wall
outpouching  if infected 
diverticulitis  manifested as
abdominal pain
 Heart valve abnormalities (MVP, aortic and
tricuspid insufficiency)
 Hepatic cysts - most common site
MADRID 2017
 Cyst in the spleen, pancreas and ovaries
 Intracranial aneurysm 5% of those without
family history and 20% if with family history –
most fatal
DIAGNOSIS ADPKD
- Renal UTZ – at least 3-5 cysts in each kidney.
o Well distributed in cortex & medulla
o If only seen in cortex then we can’t say
its ADPKD
- Must be bilateral
- UTZ images also seen in Multiple Simple Cystic
Dse – also bilateral involving both the cortex &
medulla.
- How to differentiate: HISTORY
- Or we can do Genetic Linkage Analysis esp for
ADPKD 1
CRITERIA FOR DIAGNOSIS OF ADPKD
 Primary criteria (on UTZ)
 Secondary criteria
o Chronic Renal Insufficiency – due to
overwork nephrons forming cyst
(acquired cysts)
o If CRI is due to ADPKD, the kidney will
be filled with a lot of cysts
o If CRI is 2 to other causes, only a few
cysts are found on the kidney.
TREATMENT
- Slow the rate of progression of renal disease
o Treat infection adequately
o Control BP & HPN
- Since the dev of HPN is due to cysts
compressing renal vessels   RAAS
o ACE inhibitor and Angiotensin II blocker
are the drug of cchoice
MEDULLARY CYSTIC KIDNEY DISEASE
- Inherited by autosommal dominant trait with
genetic heterogenicity
- The kidneys have shrunken and thinned cortex
- Cysts is ONLY FOUND IN THE MEDULLA
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- Cystis arise from the distal tubules and - Equal incidence in male and female
collecting tubules usually in the - 70% bilateral involvement
corticomedullary junction. - Benign disease
- Small kidneys but with normal creatinine level - HYPERTENSION IS UNUSUAL
- Cysts range from < 1mm to 1 cm - No specific therapy except if with recurrent
- Signs and symptoms: stone formation.
o Polyuria, o Potassium citrate – prevents stone
o Polydipsia formation.
o Growth retardation
- COMMON PROBLEMS:
- TYPE OF MEDULLARY CYSTIC KIDNEY DISEASE: o Formation of kidney stones
o TYPE I  Calcium phosphate
 Exhibits slowly progressive CKD  Calcium Oxalate
o TYPE II o Increased frequency in UTI
 Cyst is NOT A COMMON o Reduced ability to concentrate urine –
FEATURE Decreased urine specific gravity
 With late onset of kidney
disease BLADDER CARCINOMA
 Benign urine sediment – NO - PAINLESS GROSS OR MICROSCOPIC
SIGNS of proteinuria and HEMATURIA that occur suddenly or
hematuria but there is intermittently
increased in uric acid level - There is presence of:
o Urinary frequency
- Cardinal sign = Sodium wasting due to defects o Nocturian Urgency
in the tubules o Dysuria
o Hyponatremia o Pelvic pain
o Volume depletion o Altered bowel habit
- No specific treatment o Palpable hypogastric mass
o Renal transplantation and dialysis can
be done - Diagnosis: CYSTOSCOPY
- Metastasis
MEDULLARY SPONGE KIDNEY o Prostate
- SMALL CYSTIC OUTPOUCHINGS form in the o Seminal vesicle
collecting duct of the renal papillae o Uterus
- Ectasia of the collecting duct give a paint brush o Vagina
or flower spray appearance of the renal papilla o Sacral vertebrae
on the intravenous pyelogram (IVP). o Lung Usually seen in
- There is presence of microscopic or gross o Liver
hematuria (> 3 rbc in urinalysis) o Bones Stage 4
- Present w/:
o Recurrent hematuria PROSTATE CANCER
o Recurrent UTI - Diagnosed through digital rectal exam DRE of
o Renal calculi the prostate and screening by prostate specific
- Coincides with: antigen.
o Hypercalciuria, - Confirmed by PSA
o Nephrocalcinosis in the cortical area - Usually presents as BPH and eventually
o UTI due to hypercalciuria diagnosed as Prostate CA
o Distal tubular necrosis - Distal tubular
necrosis is a case in which patient is in AGE PSA LEVEL
metabolic acidosis in ABG but his urine < 50 years old <2.5 ng/ml
PH is alkali. It is accompanied by 50 – 59 < 3.5
hypokalemia and normal anion gap. 60- 70 < 4.5

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 > 70 < 6.5 involvement, 10% 5 year
survival
RENAL CELL CARCINOMA
- TRIAD: Poor Prognosis
o Hematuria - If with no prior nephrectomy
o Flank pain - KPS <80 and decrease LDH
o Palpable mass
Treatment: Radical Nephrectomy
- There is also presence of constitutional - N bloc removal of Gerotas Fascia aand its
symptoms such as fever, night sweats, anorexia contents including the kidney, ipsilateral
and weight loss. adrenal gland and adjacent LN.
- Arise from the proximal convoluted tubular
cells
- Usual SOLITARY LESIONS affecting ither kidney
with equal frequency.
- Well demarcated, round yellowish masses
protruding from the cortex with area of:
o Necrosis
o Cystic degeneration
o Hemorrhage
o Calcification
- PARANEOPLASTIC SYNDROMES:
o Hupocalcemia
o Hyponatremia
o Erythrocytosis

- Distant metastasis more common in the:

o Lung
o Liver
o Bone
o Brain

STAGING

STAGE INVOLVEMENT
STAGE I Confined within the
KIDNEY CAPSULE
<7 cm in diameter
>90% 5 year survival
STAGE II >7 cm confined to the
kidney
85% 5 year survival
STAGE III Tumor extends thru the
renal capsule but are
confined to the gerotas
fascia Stage 3A – 60%
survival

Involvement of single hilar

lymph node – Stage 3B N1
STAGE IV With distant metastases
with multiple LN

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