eMedicine Specialties > Pediatrics: General Medicine > Nephrology

Polycystic Kidney Disease: Differential Diagnoses & Workup

Author: Priya Verghese, MD, Fellow in Pediatric Nephrology, Seattle Children's Hospital, University of Washington
Coauthor(s): Jordan M Symons, MD, Associate Professor of Pediatrics, University of Washington School of Medicine; Dialysis Medical Director, Department of Nephrology, Children's Hospital and Regional Medical Center; Henrique M Lederman, MD, PhD, Consulting Staff, Department of Radiology, LeBonheur Children's Medical Center and St Jude Children's Research Hospital; Professor of Radiology and Pediatric Radiology, Chief, Division of Diagnostic Imaging in Pediatrics, Federal University of Sao Paulo, Brazil; Peter J Hurh, Research Fellow, Department of Radiology, The Children's Hospital of Philadelphia; H Jorge Baluarte, MD, Medical Director, Renal Transplant Program, Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia; Professor of Pediatrics, University of Pennsylvania
Contributor Information and Disclosures

Updated: Aug 13, 2008

Differential Diagnoses

Caroli Disease
Congenital Hepatic Fibrosis
Multicystic Renal Dysplasia
Neonatal Hypertension
Polycystic Kidney Disease
Ureteropelvic Junction Obstruction

Other Problems to Be Considered

Glomerulocystic kidney disease

Workup

Laboratory Studies

  • Blood and urine studies are useful in evaluating patients with both types of polycystic kidney disease (PKD), although none are diagnostic. Based on the patient's clinical presentation, these studies are performed at diagnosis and are repeated as appropriate during the disease course.
  • The glomerular filtration rate (GFR) is measured with various tests. The most common is the serum creatinine level test. Creatinine is a product of creatine and phosphate metabolism in the muscle and is therefore produced in quantities directly proportional to muscle mass. Normal values of creatinine depend on the patient's muscle mass and, therefore, age and build of the children. Acute or gradual loss of renal function causes an increase in the serum creatinine concentration.
  • BUN levels in plasma are also increased in renal dysfunction. However, this is not as reliable as the serum creatinine level test because BUN levels are also elevated in cases of intravascular depletion, increased protein intake, catabolism, and gastrointestinal hemorrhage and may be reduced in chronic liver disease.
  • Serum electrolyte levels may reveal further evidence of glomerular and tubular dysfunction in polycystic kidney disease. Reduced glomerular filtration results in intravascular fluid overload, which can cause hyponatremia. Hyponatremia related to fluid overload in patients with oliguria resolves with time. It can also be associated with hyperkalemia, hyperphosphatemia, and metabolic acidosis. Reduced renal function causes abnormalities in the conversion of vitamin D into its active form, leading to hypocalcemia. Alkaline phosphatase levels may be normal or can be elevated secondary to the hyperparathyroidism triggered by this hypocalcemia. Tubular dysfunction can also cause electrolyte abnormalities.
  • Liver function is usually normal.
  • Metabolic acidosis may be present.
  • Gross or microscopic hematuria may be present. Gross hematuria often develops after minor trauma to the flank.
  • Serum albumin levels may be low (<3.5 g/dL) because of a number of factors, including the following:
    • Urinary protein losses
    • Malnutrition (often due to poor appetite in patients with renal insufficiency)
    • Liver dysfunction (can cause protein malabsorption)
    • Decreased hepatic synthesis in patients with advanced liver disease
  • Liver function test findings are often abnormal in the later stages of the disease, particularly in autosomal recessive polycystic kidney disease.
  • Urine analysis findings can be normal. Microhematuria or macrohematuria may be present. Macrohematuria is more common in autosomal dominant polycystic kidney disease. Proteinuria, pyuria, and, sometimes, evidence of urinary concentrating defects such as prerenal azotemia may be present.

Imaging Studies

  • Ultrasonography findings in autosomal recessive polycystic kidney disease (ARPKD)
    • Prenatal findings
      • Bilaterally enlarged echogenic kidneys
      • Small or nonvisualized bladder with absence of urine
      • Large renal masses
      • Oligohydramnios, usually not observed before 30 weeks' gestation
    • Neonatal findings
      • Bilaterally smooth, enlarged kidneys, which are diffusely echogenic with poor corticomedullary differentiation
      • Microcysts that are difficult to visualize and account for the diffuse echogenicity
      • Hypoechoic macrocysts, which may be visualized in worsening disease
      • Hepatic parenchymal echogenicity (may be diffusely increased with fibrous tissue that causes poor depiction of peripheral portal veins)
    • Patients are most commonly diagnosed based on prenatal ultrasonography findings. In older children who present late, renal ultrasonography findings may be less reliable. Hepatic features are often the prominent presenting feature. Findings in older children include the following:
      • Enlarged kidneys in older children with autosomal recessive polycystic kidney disease differ from enlarged kidneys in younger children with autosomal recessive polycystic kidney disease in that the hyperechogenicity is mainly in the medulla because of focal tubular cysts.
      • Renal macrocysts are more common in this age group.
      • The Liver is often enlarged with heterogeneously or homogenously increased echogenicity.
      • Macrocysts in the liver and pancreas are often visualized.
      • Splenomegaly is also observed.
      • The reversal of hepatic venous blood flow revealed by Doppler ultrasonography suggests portal hypertension.
      • Macroscopic liver cysts are uncommon, although choledochal cysts have been reported.
      • When present, biliary duct dilatation is indistinguishable from Caroli disease.
    • Adult findings
      • Multiple small cysts, typically in normal-sized kidney
      • Increased cortical echogenicity
      • Loss of corticomedullary differentiation
  • Ultrasonography findings in autosomal dominant polycystic kidney disease (ADPKD)
    • Ultrasonography should be first line of imaging in patients who are at risk for autosomal dominant polycystic kidney disease, especially patients older than 30 years. In patients younger than 30 years, ultrasonography may not reveal manifestations, and linkage analysis may be more sensitive.
    • Ultrasonography findings in patients with autosomal dominant polycystic kidney disease include the following:
      • Occasionally, prenatal ultrasonography reveals renal cysts. Multiple, bilateral macrocysts smaller than 2 cm may be present. Renal cysts combined with positive family history findings suggest autosomal dominant polycystic kidney disease. In families with known autosomal dominant polycystic kidney disease, routine screening ultrasonography often reveals cysts in asymptomatic children.
      • Kidneys are usually normal in size with normal echogenicity. Infants may have large hyperechoic kidneys, with or without macrocysts, with varying degrees of renal insufficiency.
      • In patients with renal insufficiency, nephromegaly and loss of corticomedullary differentiation has been observed.
      • Less commonly, prenatal ultrasonography findings and ultrasonography findings in infants may be indistinguishable from findings in patients with autosomal recessive polycystic kidney disease.
      • Routine ultrasonography screening that demonstrates even one cyst is highly predictive of the development of symptomatic autosomal dominant polycystic kidney disease later in life in a child with a family history of autosomal dominant polycystic kidney disease.
      • Multicystic kidney disease differs from polycystic kidney disease in that it is unilateral with multiple noncommunicating macrocysts of varying size.
      • Pancreatic cysts are found exclusively in patients with PKD1 and are usually asymptomatic.
      • Ovarian cysts may be present.
  • MRI findings in autosomal recessive polycystic kidney disease
    • Enlarged kidneys with T2-weighted imaging that shows increased signal intensity
    • Characteristic hyperintense, linear, radial pattern in cortex and medulla
    • MRI is not routinely performed in patients with autosomal dominant polycystic kidney disease.
  • CT scanning is not a diagnostic procedure of choice in either form of polycystic kidney disease.
    • In autosomal recessive polycystic kidney disease, noncontrast CT scanning reveals smooth, enlarged kidneys. With intravenous contrast, kidneys have a striated appearance due to accumulation of contrast in dilated tubules. Depending on degree of renal insufficiency, a proportionate delay in arrival of contrast to kidneys is observed. Macrocysts may appear as well-circumscribed lucent defects. The bladder may be opacified.
    • In autosomal dominant polycystic kidney disease, well-delineated cysts that do not enhance following intravenous contrast administration may be present in both kidneys. Over time, kidneys and cysts often grow as revealed by CT scanning. If a cyst hemorrhage is present, it can be observed as a high-density cyst.
  • Radiographic findings in autosomal recessive polycystic kidney disease
    • Abdominal radiography may reveal enlarged neonatal kidneys, abdominal distension, and centrally deviated gas-filled bowel loops.
    • Chest radiography reveals pulmonary hypoplasia, which manifests as a small thorax.
    • Pneumothorax can occur in infants after birth.
  • Radiographic findings in autosomal dominant polycystic kidney disease
    • Intravenous pyelogram findings may be normal or have abnormalities of one or both kidneys
    • Grossly enlarged kidneys with lobular appearance
    • Distorted calyces secondary to non-opacified cysts with smooth or irregular indentations
    • Numerous bilateral cysts of various sizes

Other Tests

  • Maternal alpha feto-protein (AFP) is increased, and amniotic fluid trehalase activities are potential markers for autosomal recessive polycystic kidney disease in utero.
  • Liver hydroxyiminodiacetic acid (HIDA) imaging and transient liver elastography may aid in diagnosis of autosomal recessive polycystic kidney disease.
  • Genetic testing may be performed.
    • Genetic testing in autosomal recessive polycystic kidney disease has improved because of haplotype-based molecular analysis. It is performed only if the patient's family has at least one established index case of autosomal recessive polycystic kidney disease.
    • Genetic testing can be used when the imaging results are equivocal or when a definite diagnosis is required in a younger individual, such as a potential living-related kidney donor. 
    • Genetic testing can be done by linkage or sequence analysis. In linkage analysis, polymorphic markers are used to flank the location of the known disease gene and to track the disease. Linkage analysis uses highly informative microsatellite markers flanking PKD1 and PKD2 and requires accurate diagnosis, and willingness of sufficient affected family members to be tested. Therefore, linkage analysis is suitable in fewer than 50% of families. It can reveal disease and carrier status in the fetus or newborn.
    • The large size and complexity of PKD1 and marked allelic heterogeneity are obstacles to molecular testing by direct DNA analysis.
    • Mutation scanning by methods such as denaturing high-performance liquid chromatography (DHPLC) in research settings has yielded mutation detection rates of around 65–70% for PKD1 and PKD2. Higher rates of around 85% are now possible by direct sequencing. However, because most mutations are unique and as many as one third of PKD1 changes are missense, the pathogenicity of some changes is difficult to prove.
  • Brain imaging is used in the diagnosis of autosomal dominant polycystic kidney disease.
  • Prenatal diagnosis in autosomal dominant polycystic kidney disease represents an ethical dilemma because symptoms may not present until well into adulthood. Making such an early diagnosis is a potential cause of "vulnerable child" syndrome. The parents view the child as prematurely "sick," and this thought process is transferred to the child, leading to behavioral and psychological changes. Until effective treatments become available, the adverse effects from presymptomatic diagnosis in children (removal of choice to know or not know, psychological, educational, and career implications, and insurability issues) outweigh the benefits.
  • Left ventricular hypertrophy and early ramifications mentioned above are revealed using echocardiography. Diastolic dysfunction is present, even in normotensive patients.

Histologic Findings

Renal biopsy is not usually indicated, particularly when the family history is positive.

More on Polycystic Kidney Disease

Overview: Polycystic Kidney Disease
Differential Diagnoses & Workup: Polycystic Kidney Disease
Treatment & Medication: Polycystic Kidney Disease
Follow-up: Polycystic Kidney Disease
Multimedia: Polycystic Kidney Disease
References
[ CLOSE WINDOW ]

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Further Reading

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Keywords

polycystic kidney disease, PKD, cystic kidney disease, genetic cystic disease, autosomal dominant polycystic kidney disease, ADPKD, adult polycystic kidney disease, autosomal recessive polycystic kidney disease, ARPKD, infantile polycystic kidney disease, medullary cystic disease, obstructive cystic disease, multicystic dysplasia, cystic dysplasia, cysts associated with systemic disease, tubular cell hyperplasia, congenital hepatic fibrosis, oligohydramnios, pulmonary hypoplasia, chronic kidney disease, acute renal failure, ARF, end-stage renal disease, hepatosplenomegaly, urinary tract infection, chronic pyelonephritis, clubfoot, renal cysts, portal hypertension, mitral valve prolapse, endocardial fibroelastosis, hyperkalemia, hyperphosphatemia, metabolic acidosis

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Contributor Information and Disclosures

Author

Priya Verghese, MD, Fellow in Pediatric Nephrology, Seattle Children's Hospital, University of Washington
Priya Verghese, MD is a member of the following medical societies: American Society of Pediatric Nephrology
Disclosure: Nothing to disclose.

Coauthor(s)

Jordan M Symons, MD, Associate Professor of Pediatrics, University of Washington School of Medicine; Dialysis Medical Director, Department of Nephrology, Children's Hospital and Regional Medical Center
Jordan M Symons, MD is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, and Renal Physicians Association
Disclosure: Nothing to disclose.

Henrique M Lederman, MD, PhD, Consulting Staff, Department of Radiology, LeBonheur Children's Medical Center and St Jude Children's Research Hospital; Professor of Radiology and Pediatric Radiology, Chief, Division of Diagnostic Imaging in Pediatrics, Federal University of Sao Paulo, Brazil
Henrique M Lederman, MD, PhD is a member of the following medical societies: Society for Pediatric Radiology
Disclosure: Nothing to disclose.

Peter J Hurh, Research Fellow, Department of Radiology, The Children's Hospital of Philadelphia
Disclosure: Nothing to disclose.

H Jorge Baluarte, MD, Medical Director, Renal Transplant Program, Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia; Professor of Pediatrics, University of Pennsylvania
H Jorge Baluarte, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, and International Society of Nephrology
Disclosure: Nothing to disclose.

Medical Editor

Richard Neiberger, MD, PhD, Director of Pediatric Renal Stone Disease Clinic, Associate Professor, Department of Pediatrics, Division of Nephrology, University of Florida College of Medicine and Shands Hospital
Richard Neiberger, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Medical Association, American Society of Nephrology, American Society of Pediatric Nephrology, Christian Medical & Dental Society, Florida Medical Association, International Society for Peritoneal Dialysis, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Shock Society, Sigma Xi, Southern Medical Association, Southern Society for Pediatric Research, and Southwest Pediatric Nephrology Study Group
Disclosure: The Osler Institute Honoraria Speaking and teaching

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Luther Travis, MD, William W Glauser Professor of Pediatrics and Pediatric Nephrology, Department of Pediatrics, Divisions of Nephrology and Diabetes, University of Texas Medical Branch and Children's Hospital
Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, and Texas Pediatric Society
Disclosure: Nothing to disclose.

CME Editor

Howard Trachtman, MD, Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine
Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD, The Isaac A Abt, MD, Professor of Kidney Diseases, Feinberg School of Medicine, Northwestern University; Division Head of Kidney Diseases, Children's Memorial Hospital, Chicago
Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology
Disclosure: Amgen Grant/research funds None; Altus Pharmaceuticals Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None

 
 
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