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Published on: June 23, 2015
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease
Nada Alamri1, Matthew B Lanktree1,2,3,4
1Department of Medicine, McMaster University, Hamilton, ON, Canada.
Rationale:
Hepatocyte nuclear factor 1 beta (HNF1B) nephropathy is a rare autosomal dominant monogenic kidney disease. We present a case mimicking autosomal dominant polycystic kidney disease (ADPKD), highlighting the phenotypic heterogeneity of HNF1B-related disease.
Presenting Concerns Of The Patient:
A 37-year-old man presented with hypertensive urgency, accompanied by flank pain and abdominal distension. Despite the absence of familial kidney disease, imaging revealed large bilateral kidney cysts resembling ADPKD.
Diagnosis:
We initially suspected de novo ADPKD. However, negative genetic testing results for PKD1 and PKD2 led to a 43-gene cystic kidney sequencing panel which identified a deletion encompassing the entire HNF1B gene.
Intervention:
To alleviate discomfort caused by the kidney cysts, ultrasound-guided aspiration and foam sclerotherapy were performed. Tolvaptan, used for treating high-risk ADPKD, was not prescribed after confirming the diagnosis was HNF1B nephropathy.
Outcomes:
A diagnosis of HNF1B nephropathy was reached following gene panel testing. Abdominal symptoms improved following cyst aspiration and foam sclerotherapy.
Novel Findings:
HNF1B nephropathy has a variable presentation but can lead to cysts appearing like ADPKD. A 43-gene cystic kidney sequencing panel identified the diagnosis in this uncertain case.
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