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Kidney Week

Abstract: PO1283

Heterozygous HSD11B2 Gene Mutations and Apparent Mineralocorticoid Excess (AME) in a Patient with Heterozygous ADPKD1

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic


  • Chang, Celeste Sharon, Chinatown Kidney Care, New York, New York, United States
  • Liu, Hsiang C., Wei Gong Memorial Hospital, Toufen, Taiwan

HSD11B2 gene which locates at Chromosome 16q22.1 and encodes the Type 2 isoform of 11-beta-Hydroxysteroid Dehydrogenase that interconverts biologically active cortisol and inactive cortisone. Polycystin-1, encoded by the PKD1 gene, which locates at Chromosome 16p13.3. PKD1 gene forms a complex with polycystin-2 (PKD2) that regulates multiple signaling pathways to maintain normal renal tubular structure and function. We present a new finding of HSD11B2 gene in a patient with polycystic kidney disease.

Case Description

58-year-old Chinese male presented with bilateral renal cysts and CKD Stage 3 A. PMHx is significant for early onset HTN at the age of 45, Left ICH without residual weakness at the age of 46 years and episode of hypokalemia. Denied Licorice ingestion. Family history is positive for HTN and polycystic kidney disease in his mother and all three siblings. His BP was 145/91 mmHg, not controlled well with daily dose of oral Lisinopril 40 mg and Amlodipine 10 mg. His Na 141, K 4.7, CO2 27, BUN 20, Cr: 1.6, GFR: 46, Hb: 12.5 and Urine protein/ Cr ratio was 0.324. He was started with low dose of Spironolactone 12.5 mg daily for BP control and proteinuria. Renal ultrasound showed Right kidney was 19.5 cm, left kidney was 18.6 cm and presence of multiple bilateral renal cysts. Abdominal CT without contrast disclosed HtTKV: 1724 ml/m. Mayo clinic class was 1 C, estimated frequency of ESRD at 10 years was 37.8%. Kidney gene panels detected the gene of PKD1 (Autosomal Dominant) and HSD11B2 (Autosomal Recessive). BP stable at 125/78 mmHg, 24-hour urine protein was 125 mg per day, Serum cortisol 11 mcg/dl (normal: 8-19 mcg/dl), Serum cortisone: 0.74 mcg/dl (normal: 1.34- 2.65 mcg/dl), Serum cortisol/cortisone ratio: 17.6 (normal: 3.9-11), 24 hours Urine free cortisol: 7 mcg/day (normal 5-64 mcg/day), 24 hours Urine free cortisone: 31 mcg/day (normal 16-128 mcg/day), 24 hours Urine free cortisol/cortisone ratio: 0.22 after spironolactone. However, it was discontinued upon repeated serum K was at the higher side of normal. He is currently treated with oral Tolvaptan.


This is an unique case which could be the first case report of HSD11B2 mutations with apparent mineralocorticoid excess associated with heterozygous ADPKD1.