Diagnosis in Polycystic Kidney Disease

Abstract

The diagnosis of ADPKD should be based on a thorough assessment of the family history, radiological study and when indicated, genetic study. The anamnestic definition of ‘negative family history’ should be accepted only after a full clinical-instrumental assessment of close relatives of the subject . Ultrasound is the diagnostic modality of choice in at-risk patients with a positive family history of ADPKD. In some clinical scenarios (screening kidney donation, family planning and others) misdiagnosis based on morphological criteria may be too high. For this reason, it is not recommended to use the kidney ultrasound in order to rule out the diagnosis in patients younger than 40 years. In the cases with a positive family history in which the renal ultrasonography has not been able to clarify the diagnosis, either as confirmation or exclusion, MRI is indicated, given the increased sensitivity and specificity of the technology. The molecular genetic analysis can help establish the diagnosis. In the cases with negative family history, it is necessary to evaluate the presence of syndromic elements non-characteristic of ADPKD. In the presence of these elements, it is recommended to send the patient to a tertiary center for a differential diagnosis based on clinical and molecular assessment.