Skill Checkup: A 41-Year-Old Man With New-Onset Abdominal and Flank Pain

Vecihi Batuman, MD


February 02, 2023

Based primarily on the patient's family history and consistent nature of his presenting symptoms (supported by his BP and urinalysis including mildly elevated NGAL and IL-18 levels), the likely diagnosis is ADPKD. This is the most common hereditary kidney disease that leads to up to 10% of ESKD cases. Elevated diastolic BP is a common early manifestation of ADPKD.

The defining feature of ADPKD is the development of clusters of cysts, which causes progressive loss of kidney function. Most cases arise from mutations in either PKD1 or PKD2. Mutations in PKD1 are much more common in most areas and manifest in more severe disease, including lower eGFR, more cysts, larger height-adjusted total kidney volume (HtTKV), and earlier development of ESKD compared with PKD2 mutations. There is no family history in as many as 25% of patients with ADPKD, and these cases may be related to subclinical disease or a new genetic mutation.

A phenotypic overlap may exist between ADPKD and other hereditary cystic kidney diseases, for example, ADTKD characterized by progressive interstitial fibrosis that should be considered in the differential. For example, mutations in UMOD, REN, MUC1, and HNF1B and others represent different types of ADTKD, which sometimes can present with renal cysts and low kidney function. However, compared with ADPKD, these patients typically have normal to slightly enlarged kidneys and either a relatively small number of kidney cysts or no cysts at presentation.

Unlike ADPKD, acquired cystic kidney disease is strictly confined to the kidneys, and the vast majority of patients are diagnosed incidentally; again, the kidneys are typically normal in size.

Von Hippel-Lindau disease is characterized by cysts in the pancreas as well as the kidneys, along with pheochromocytomas and the development of retinal and central nervous system hemangioblastomas.


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