Diagnosis of and screening for autosomal dominant polycystic kidney disease
- Vicente E Torres, MD
Vicente E Torres, MD
- Professor of Medicine
- Mayo Clinic College of Medicine
- William M Bennett, MD
William M Bennett, MD
- Medical Director
- Legacy Good Samaritan Transplant Services
Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in every 400 to 1000 live births [1-3]. It is estimated that less than one-half of these cases will be diagnosed during the patient's lifetime as the disease is often clinically silent .
Approximately 78 percent of families with ADPKD have an abnormality on chromosome 16 (PKD1 locus) that is tightly linked to the alpha-globin gene locus . Most of the remaining families (14 percent) have a different defect that involves a gene on chromosome 4 (the PKD2 locus). In approximately 8 percent of families, no mutation is detected. In small number of these families, mutations in GANAB encoding the glucosidase II alpha subunit have been identified . (See "Genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth".)
Patients with PKD2 have a less severe phenotype than those with PKD1, but neither disorder is benign . Cysts occur later in PKD2 disease, as does end-stage renal disease (ESRD; mean age 74.0 versus 54.3 years in PKD1) . As a result, false-negative results are more likely when screening young subjects with PKD2 disease. (See "Course and treatment of autosomal dominant polycystic kidney disease".)
The diagnosis of and screening for ADPKD will be reviewed here. The course and treatment of this disorder are discussed separately. (See "Course and treatment of autosomal dominant polycystic kidney disease".)
The diagnosis of ADPKD relies principally upon imaging of the kidney . Typical findings include large kidneys and extensive cysts scattered throughout both kidneys. Because of cost and safety, ultrasonography is most commonly used as the imaging modality. In certain settings, genetic testing is required for a definitive diagnosis.
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- POSITIVE FAMILY HISTORY
- Screening and diagnosis of asymptomatic individuals
- - Ultrasonographic criteria for adults
- At risk but unknown familial genotype
- At risk for type 1 ADPKD
- At risk for type 2 ADPKD
- - Other imaging modalities
- - Approach after equivocal ultrasound results
- - Infant/child
- Diagnosis of symptomatic individuals
- NEGATIVE FAMILY HISTORY
- Differential diagnosis
- - Adults and older children
- - Young children and infants
- GENETIC TESTING
- PRENATAL AND PREIMPLANTATION GENETIC TESTING
- ADDITIONAL INFORMATION
- SOCIETY GUIDELINE LINKS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS