Kidney Week

Abstract: PUB284

A Young Woman with Autosomal Dominant Polycystic Kidney Disease and Recurrent Kidney Stones Coexisting with Gitelman Syndrome

Session Information

• Publication Only

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Cystic

Authors

• Lu, Ang, Tri-Service General Hospital, Taipei, Taiwan, Taiwan

Ang Lu, MD

• Chen, Chien-Chou, Tri-Service General Hospital, Taipei, Taiwan, Taiwan

Chien-Chou Chen, MD

• Lin, Shih-Hua P., Tri-Service General Hospital, Taipei, Taiwan, Taiwan

Shih-Hua P. Lin, MD

Introduction

Autosomal dominant polycystic kidney disease (ADPKD), the leading genetic cause of end-stage kidney disease, is characterized by bilateral renal cysts, chronic kidney disease, and recurrent urinary tract infections (UTIs). Gitelman syndrome (GS), the most common inherited tubulopathy, involves a salt-losing nephropathy featured by hypokalemia, metabolic alkalosis, magnesium wasting, and hypocalciuria. The coexistence of ADPKD and GS is rarely reported. We present a case of a young female with recurrent UTIs, renal stones, cystic kidney disease, and hypokalemia, diagnosed through genetic analysis.

Case Description

A 26-year-old female with history of cystic kidney disease, recurrent UTIs and chronic hypokalemia (3.1 mmol/L) presented with fever, and dysuria for days. Her family history included a mother with ADPKD and an aunt on hemodialysis after bilateral nephrectomy. On admission, she had UTI with bilateral renal stones, hypokalemia, and hypomagnesemia (2.8 and 0.8 mmol/L) and received ureteroscopy with laser lithotripsy. Urine biochemistry showed renal potassium and magnesium wasting and hypocalciuria. Her recurrent renal stones, electrolyte imbalances, and cystic kidney disease, along with family history, raised suspicion of genetic disorder. The molecular sequencing revealed possible PKD1 and NHF1B mutations. Following treatment with oral magnesium and potassium supplements, no recurrent episodes occurred.

Discussion

This is the first case demonstrating the coexistence of ADPKD and GS diagnosed via whole exome sequencing. The PKD1 gene is releated with ADPKD, causing to renal cysts and stone formation. Hepatocyte nuclear factor-1β is a DNA-binding transcription factor essential for kidney development, and its mutations cause tubulointerstitial abnormalities and GS. This case highlights the importance of genetic analysis for early diagnosis and management to prevent complications and improve outcomes.

Figure 1-A: Polycystic kidneys and bicornuate uterus 4 years prior. Figure 1-B: Multiple renal stones with partial right staghorn stone on admission.