Updated: 12/15/2019

Adult Polycystic Kidney

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Snapshot
  • A 32-year-old man presents with hematuria and abdominal pain. He denies any recent trauma or this ever happening before. Family history is significant for his mother dying from a "brain bleed" at age 42. Vital signs are significant for a blood pressure of 158/105 mmHg. On physical exam, there a late systolic crescendo murmur with a midsystolic click and tenderness upon palpation of the abdominal flanks. An ultrasound of the abdomen shows bilateral anechoic cysts with posterior enhancement.
Introduction
  • Clinical definition
    • an inherited disorder that results in the 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
  • Etiology
    • secondary to mutations in PKD1 (on chromosome 16, more common; ~85%) or PKD2 (on chromosome 4) 
  • Pathogenesis
    • PKD1 or PKD2 mutations result 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
  • Physical exam 
    • hypertension
Imaging
  • Ultrasound
    • indication
      • in patients with findings suggestive of autosomal dominant polycystic kidney disease
      • to test family members of patients 
    • findings
      • renal cysts  
        • anechoic structures with posterior acoustic enhancement
Studies
  • Genetic testing
    • routine use is not recommended
  • Diagnostic criteria
    • diagnosis is made by imaging (e.g., renal ultrasound) along with a consistent clinical presentation (e.g., hypertension in a young adult)
Differential
  • Autosomal recessive polycystic kidney disease
    • risk factor for Potter sequence 
  • von Hippel-Lindau syndrome
  • Medullary cystic disease
  • Simple renal cyst
Treatment
  • Medical
    • ACE-inhibitor or angiotensin receptor blocker (ARB)
      • initial treatment of hypertension in patients with ADPKD
      • other medications are used to manage ADPKD complications
Complications
  • Renal complications
    • hematuria
    • nephrolithiasis
    • urinary tract infection
  • Extra-renal complications
    • hypertension (most common)
    • intracranial aneurysm
 

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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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(M3.RL.15.24) A 42-year-old man presents to his physician with dark urine and intermittent flank pain. He has no significant past medical history and generally is healthy. His temperature is 97.5°F (36.4°C), blood pressure is 182/112 mmHg, pulse is 85/min, respirations are 15/min, and oxygen saturation is 98% on room air. Physical examination is significant for bilateral palpable flank masses and discomfort to percussion of the costovertebral angle. Urinalysis is positive for red blood cells without any bacteria or nitrites. Which of the following diagnostic modalities should be used to screen members of this patient's family to assess if they are affected by the same condition? Review Topic | Tested Concept

QID: 103514
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Abdominal CT

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Genetic sequencing

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Renal biopsy

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Renal ultrasound

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Voiding cystourethrogram

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L 2 E

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(M2.RL.15.62) A 39-year-old male is rushed to the emergency department after he developed a sudden-onset severe headache with ensuing nausea, vomiting, vision changes, and loss of consciousness. Past medical history is unattainable. He reports that the headache is worse than any he has experienced before. Noncontrast CT of the head is significant for an intracranial hemorrhage. Follow-up cerebral angiography is performed and shows a ruptured anterior communicating artery aneurysm. Which of the following has the strongest association with this patient's current presentation? Review Topic | Tested Concept

QID: 104604
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History of multiple hemangioblastomas of the retina and spine as well as pheochromocytoma

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Brain MRI showing a butterfly glioma with a central necrotic core

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Abdominal CT suggestive of renal cell carcinoma

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Kidney ultrasound showing numerous bilateral renal cysts

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History of renal transplantation at 8 years of age

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(M2.RL.14.172) A 32-year-old woman presents to her primary care doctor with a chief complaint of dark urine. She has noticed that her urine has appeared darker over the past several weeks. She otherwise states she is healthy, does yoga regularly, and is a vegetarian. Her temperature is 98.1°F (36.7°C), blood pressure is 172/103 mmHg, pulse is 83/min, respirations are 15/min, and oxygen saturation is 98% on room air. Physical exam is notable for bilateral nontender flank masses. Laboratory studies are ordered as seen below.

Serum:
Na+: 139 mEq/L
Cl-: 100 mEq/L
K+: 5.5 mEq/L
HCO3-: 25 mEq/L
BUN: 47 mg/dL
Glucose: 91 mg/dL
Creatinine: 3.1 mg/dL

Urinalysis:
Color: Dark
Red blood cells: Positive
Bacteria: Absent
Leukocytes: Absent
Nitrites: Negative

A computed tomography (CT) scan is performed as seen in Figure A. Which of the following could be found in this patient?
Review Topic | Tested Concept

QID: 104178
FIGURES:
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Ventricular septal defect

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Fixed splitting of S2

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Hepatic vein thrombosis

3%

(1/32)

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Mid-systolic click

19%

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Preceding dermatologic infection

56%

(18/32)

L 4 E

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