Glomerulocystic kidney disease (GCKD) is a rare cystic kidney disease.
Following syndromic associations have been proposed 4:
- Down syndrome
- asplenia with cardiovascular anomalies
- multiple acyl-CoA dehydrogenase deficiency
- Jeune syndrome
- Marden-Walker syndrome
- maturity-onset diabetes mellitus of the young
- Meckel-Gruber syndrome
- medullary cystic kidney disease
- orofaciodigital syndrome - type I
- phocomelia syndrome (Robert/pseudothalidomide syndrome)
- short rib-polydactyly syndrome
- Smith-Lemli-Opitz syndrome
- tuberous sclerosis complex
- Zellweger (cerebrohepatorenal) syndrome
Histopathology typically shows normal-sized glomeruli with the enlarged Bowman’s space and tubular cystic changes. A proposed mechanism of glomerular cyst development is stenosis at the glomerulotubular junction but the exact mechanism is still unknown.
- familial non-syndromic, e.g. autosomal dominant polycystic kidney disease in young infants
- associated with inheritable malformation syndromes, e.g. tuberous sclerosis complex
- syndromic, non-Mendelian, e.g. trisomy 9, 13, or 18
- sporadic, e.g. new mutations
- acquired and dysplastic kidneys, e.g. obstructive uropathy 3
Appearance of the cysts in glomerulocystic disease are like any other cyst in the body. However, the cortical distribution will aid in the diagnosis.
In glomerulocystic kidney disease, ultrasound usually demonstrates bilateral echogenic kidneys with loss of corticomedullary differentiation 5. Small cortical cysts may be visualized 6.
CT demonstrates bilateral multiple cysts that are hypoattenuating and typically in the subcapsular location 6,7.
MRI shows marked bilateral renal enlargement with multiple small (~1 cm) cortically-based cysts that are T1 low signal and T2 high signal.
The renal cortices have a uniform T1 low signal with a loss of the normal corticomedullary relationship. On T2WI, the cortex shows high signal similar to that of the medulla. These findings probably reflect the predominance of numerous minute cysts in the cortex, which is an important morphologic feature of glomerulocystic disease.
Hypointensity of the renal cortex alone has been described in multiple diseases but cortical hypointensity on T1 with loss of corticomedullary differentiation and numerous/innumerable cortical-based small cysts is considered pathognomonic for glomerulocystic disease 6,7.
History and etymology
In 1941, Roos described an infant with cystic glomeruli who was affected by rickets, and renal failure 1. The term glomerulocystic kidney disease was first coined by Taxy and Filmer 2.
- 1. POLYCYSTIC KIDNEY: REPORT OF A CASE STUDIED BY RECONSTRUCTION. (1941) American Journal of Diseases of Children. 61 (1): 116. doi:10.1001/archpedi.1941.02000070125011
- 2. Taxy JB, Filmer RB. Glomerulocystic kidney. Report of a case. (1976) Archives of pathology & laboratory medicine. 100 (4): 186-8. Pubmed
- 3. Bernstein J. Glomerulocystic kidney disease--nosological considerations. (1993) Pediatric nephrology (Berlin, Germany). 7 (4): 464-70. Pubmed
- 4. Bissler JJ, Siroky BJ, Yin H. Glomerulocystic kidney disease. (2010) Pediatric nephrology (Berlin, Germany). 25 (10): 2049-56; quiz 2056-9. doi:10.1007/s00467-009-1416-2 - Pubmed
- 5. Oliva MR, Borges Oliva MR, Hsing J, Rybicki FJ, Fennessy F, Mortelé KJ, Ros PR. Glomerulocystic kidney disease: MRI findings. (2003) Abdominal imaging. 28 (6): 889-92. doi:10.1007/s00261-009-9574-z - Pubmed
- 6. K. Egashira, Hajime Nakata, O. Hashimoto, K. Kaizu. MR Imaging of Adult Glomerulocystic Kidney Disease. (2010) Acta Radiologica. doi:10.3109/02841859109177558
- 7. Fred E. Avni, Catherine Garel, Marie Cassart, Nicky D’Haene, Michele Hall, Michael Riccabona. Imaging and Classification of Congenital Cystic Renal Diseases. (2012) American Journal of Roentgenology. doi:10.2214/AJR.11.8083?src=recsys