Glomerulocystic Kidney Disease with Concurrent Thin Basement Membrane Disease in an Adult Male
- Genetic Diseases: Cystic - Genetic Analysis and Extrarenal Manifestations
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
- Yoo, Thomas Taeyeon, Loma Linda University Medical Center, Loma Linda, California, United States
- Hussain, Marvi, Kaiser Permanente Southern California, Pasadena, California, United States
- Treger, Richard M., Kaiser Permanente Southern California, Pasadena, California, United States
Glomerulocystic kidney (GCK) is a rare condition that presents as progressive renal insufficiency and is typically found in pediatric patients with only a few cases described in adults. GCK is defined by the dilation of Bowman space to 2-3 times that of normal size and more than 5% of glomeruli are involved. Patients with GCK have rapid development of renal insufficiency in less than 1 year and most progress to ESRD. Multiple cases of GCK have been reported; however, GCK with concurrent TBMD has an even rarer occurrence.
A 30-year-old Asian male patient with history of bilateral glaucoma and gout with no family history of renal disease was admitted for evaluation of urinary retention and renal insufficiency. Foley catheter was placed with 900 ml of yellow urine suggesting urinary obstruction. Physical exam reveals no flank tenderness. Renal ultrasound showed increased echogenicity of the kidneys, without hydronephrosis. No renal stones, perinephric stranding, hydronephrosis, or cysts in organs were noted on CT. The patient underwent a renal biopsy with preliminary findings consistent with obstructive nephropathy. Patient’s renal function did not improve with foley insertion. GN serology was unrevealing. UA with 4-10/HPF RBC, 2+ Hb and 1+ protein. Biopsy was reviewed again with renal pathologist, and the findings were consistent with GCKD with concurrent thin basement membrane and chronic tubulointerstitial disease. The patient was started on hemodialysis and referred to genetics clinic. A pathogenic variant was detected in the COL4A1 gene and heterozygous pathogenic variants in the ECHS1 & ITPA genes.
To our knowledge, this is the first case of GCK with concurrent TBMD with pathogenic variants of the COL4A1, ECHS1, and ITPA genes. Previous literature has identified 5 main types of GCK: GCK in PCKD, hereditary, syndromic, obstructive, and sporadic. Our case is most consistent with hereditary variant of GCKD. This has been reported in one case study by Hashimoto et al. in which no pathogenic mutations in genes had been identified. A pathogenic COL4A1 gene can lead to hereditary angiopathy with nephropathy, aneurysms, and associated with renal cystic lesions and basement membrane involvement as seen in our patient. GCKD with concurrent TBMD can present in adulthood. This case report highlights this rare presentation of GCKD.