Updated: 1/8/2018

Renal Cyst Disorders

Topic
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Questions
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Evidence
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Snapshot
  • A 26-year-old man presents to his primary care physician with abdominal and lower back pain. He reports to also seeing blood in his urine. Medical history is non-contributory. Family history is significant for his father requiring hemodialysis at a young age. Vitals signs are significant for a blood pressure of 162/112 mmHg. A renal ultrasound is performed and shown. (Adult polycystic kidney disease)
Adult Polycystic Kidney Disease (ADPCKD)
  • Clinical definition
    • an inherited disorder that results in expansion of multiple renal cysts which ultimately leads to end-stage renal disease
  • Epidemiology
    • incidence
      • the most common inherited cause of kidney disease
    • demographics
      • ≥ 30 years of age
    • risk factors
      • family history
  • Pathogenesis
    • PKD1 or PKD2 mutations results in abnormal cell signaling that results in cystogenesis
      • expansion of cysts results in progressive loss of nephrons
  • Genetics
    • inheritance pattern
      • autosomal dominant
    • mutations
      • PKD1 (on chromosome 16) or PKD2 (on chromosome 4)
        • PKD1 encodes polycystin-1
        • PKD2 encodes polycystin-2
  • Associated conditions
    • cyst development in other organs such as
      • liver (most common extra-renal cyst type)
      • pancreas
      • seminal vesicle
      • note, that kidneys appear normal at birth
    • vascular abnormalities such as
      • intracranial aneurysm
      • coronary artery aneurysm
    • cardiovascular abnormalities
      • mitral valve prolapse
      • left ventricular hypertrophy
    • diverticulosis
  • Prognosis
    • with age the number and size of the cyst increases
  • Presentation
    • symptoms
      • abdominal or flank pain
      • low back pain
      • hematuria
      • urinary tract infection
Juvenile Polycystic Kidney Disease (ARPCKD)
  • Clinical definition
    • a congenital fibrocystic disorder that results in renal and hepatic manifestations
  • Epidemiology
    • incidence
      • 1 in 20,000 live births
  • Pathogenesis
    • PKHD1 gene mutation leads to abnormal production of fibrocystin and polyductin which results in defects of the
      • renal tubular structures
        • dilatation and elongation of collecting ducts
      • bile duct structures
        • cystic dilatation of intra- and extra-hepatic bile ducts
  • Genetics
    • inheritance pattern
      • autosomal recessive
    • mutation
      • PKHD1 gene on chromosome 6 
  • Associated conditions
    • Potter sequence
  • Presentation
    • symptoms/physical exam
      • bilateral abdominal mass in infants and children
      • hepatomegaly in infants and children
      • hypertension
Medullary Cystic Disease
  • Clinical definition
    • an autosomal dominant inherited disorder that results in tubulointerstitial fibrosis of the kidney
    • medullary cystic disease is characterized by
      • autosomal dominant inheritance pattern
      • progressive and slow impairment in renal function that ultimately results in end-stage renal disease
      • no or minimal proteinuria with a bland urine sediment
      • medullary cysts on renal ultrasound
        • in most cases medullary cysts are not present
        • can see shrunken kidneys on ultrasound

 

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Questions (5)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
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(M1.RL.72) A 35-year-old male with a history of hypertension presents with hematuria and abdominal discomfort. Ultrasound and CT scan reveal large, bilateral cysts in all regions of the kidney. The patient’s disease is most commonly associated with: Review Topic

QID: 101026
1

Aortic stenosis

0%

(0/12)

2

Berger’s disease

0%

(0/12)

3

Diabetes mellitus

0%

(0/12)

4

Berry aneurysm

100%

(12/12)

5

Henoch-Schonlein purpura

0%

(0/12)

M1

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PREFERRED RESPONSE 4
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(M1.RL.26) A female infant is born with a mutation in PKD1 on chromosome 16. An abdominal ultrasound performed shortly after birth would most likely reveal which of the following? Review Topic

QID: 100980
1

Bilateral kidney enlargement

0%

(0/5)

2

Microscopic cysts

40%

(2/5)

3

Horseshoe kidney

0%

(0/5)

4

Adrenal atrophy

0%

(0/5)

5

Normal kidneys

60%

(3/5)

M1

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