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Case 157
Diagnosis
 
     
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Diagnosis: Glomerulocystic Kidney Disease

Glomerulocystic kidney disease (GCKD) is a rare form of hereditary disease characterized by cystic dilation of Bowman's capsule and the initial proximal convoluted tubule. The dilated Bowman spaces are lined by a flattened epithelium and contain rudimentary glomerular tufts. GCKD is defined as two- to three-fold dilatation of Bowman’s space in more than 5% of identifiable glomeruli in the plane of a kidney section, and the glomerular cysts in primary GCKD are mainly localized to the subcapsular region of the kidney (Rasouly HM, et al. Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease. Kidney Int. 2016;90(6):1262-1273. [PubMed link]).

On ultrasonographic imaging, the kidneys can appear enlarged with increased echogenicity and loss of corticomedullary junction differentiation. Familial GCKD is typically identified with hypoplastic or normal-sized kidneys. However, in both sporadic and familial forms, the kidneys can be either hypoplastic, normal-sized, or enlarged. Punctate cysts can be seen and will differentiate this from the classical ARPKD findings on ultrasound. On computed tomography (CT) and magnetic resonance imaging (MRI), GCKD appears as numerous small cortical cysts. These do not enhance with gadolinium during MRI. Unlike other cystic kidney diseases, the tubules in GCKD usually remain unaffected. Given the inconsistent nature of GCKD, it is clinically difficult to diagnose and can only be established by renal biopsy (Lundquist AL. Hereditary Renal Cystic Diseases: Glomerulocystic Kidney Disease. In: Renal & Urology News: www.renalandurologynews.com... Accessed February 26th, 2019 [Link to the website]).

Glomerular cysts in association with tubular cysts can be found in several syndromes including tuberous sclerosis complex, orofaciodigital syndrome 1, and Meckel-Gruber syndrome. Glomerular cysts can also be found in patients with mutations in the UMOD and HNF1β genes, and in patients of autosomal dominant polycystic kidney disease with PKD1 mutations, other ciliopathies such as nephronophthisis, multicystic dysplastic kidney or urinary tract obstruction. However, the genetic basis of primary glomerulocystic kidney disease without tubular dilatation remains largely unknown (Rasouly HM, et al. Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease. Kidney Int. 2016;90(6):1262-1273. [PubMed link]).

See the chapter: Cystic renal diseases and developmental defects of our Tutorial (This chapter has only Spanish version).

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References

  • Islam N, Mandal B, Bera G, Mukherjee S, Chatterjee U. Glomerulocystic disease, a rare cause of renal cysts in infants: A series of three cases. Indian J Pathol Microbiol. 2019;62(1):95-98. [PubMed link]
  • Rasouly HM, Kumar S, Chan S, Pisarek-Horowitz A, Sharma R, Xi QJ, Nishizaki Y, Higashi Y, Salant DJ, Maas RL, Lu W. Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease. Kidney Int. 2016;90(6):1262-1273. [PubMed link]
  • Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. Am J Hum Genet. 2016;99(1):174-87. [PubMed link]
  • Chen Z, Migeon T, Verpont MC, Zaidan M, Sado Y, Kerjaschki D, Ronco P, Plaisier E. HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease. J Am Soc Nephrol. 2016;27(4):1042-54. [PubMed link]
  • Cramer MT, Guay-Woodford LM. Cystic kidney disease: a primer. Adv Chronic Kidney Dis. 2015;22(4):297-305. [PubMed link]

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