Search

Glomerulocystic kidney disease (GCKD) is an uncommon type of cystic renal disease affecting children. It has both sporadic and familial occurrence and is characterized by cortical microcysts associated with dilatation of Bowman's spaces. In some instances, GCKD is an early manifestation of autosomal dominant polycystic kidney disease. Here, we present three cases of GCKD, two in infants and one in a perinatal postmortem. The first one is a case of GCKD with unilateral involvement, diagnosed on surgical biopsy. GCKD is a morphological expression of several hereditary and nonhereditary disorders that differ vastly in their management and long-term outcome. Hence, accurate morphological diagnosis of this entity is important for prognostication and genetic counseling.

Hypoplastic glomerulocystic kidney disease is an autosomal dominant disorder caused by mutations in hepatocyte nuclear factor-1beta. Hepatoblastoma is a sporadic occurring tumor of embryonal origin that has been associated with the several overgrowth syndromes. We report a case of concomitant hypoplastic glomerulocystic kidney disease and hepatoblastoma. Review of the literature identified 4 other patients with a similar association. We propose that hypoplastic glomerulocystic kidney disease and hepatoblastoma represent a possible association, and we excluded mutations in hepatocyte nuclear factor-1beta in our patient as causative of this putative association.

We report an 18-year old woman who had glomerulocystic kidney disease (GCKD) without a family history of renal disease or hypertension and no known congenital abnormalities. Her renal function was normal. Renal biopsy showed cystic dilatation of the Bowman's spaces and atrophy of the glomerular tufts. Electron microscopy revealed specific changes in the basement membranes of noncystic glomeruli, suggesting a congenital origin for her renal pathology. This relatively rare case contrasts with the usual presentation of GCKD in neonates or children.

A 4-month-old 1-kg female Siamese-Manx cross kitten was evaluated because of renomegaly and renal failure. Ultrasonography and cytologic examination of a renal aspirate failed to provide an antemortem diagnosis. Histologic lesions included diffuse cystic dilatation of all tubules and Bowman's spaces in the renal cortex and occasional small glomerular tufts; the lesions were similar to those of glomerulocystic kidney disease of humans. Glomerulocystic kidney disease is a rare cause of early-onset renal failure, but should be considered when renomegaly is detected, cysts are not detected in the kidney by ultrasonography, and cytologic examination of a renal aspirate is nondiagnostic.

Summary A case of glomerulocystic disease of the kidneys in a newborn is described. The kidneys were very large and diffusely cystic. Histologically, all portions of the nephron were involved and some of the cysts were lined by a prominent hyperplastic eosinophilic epithelium. This, together with the presence of numerous cardiac rhabdomyomas, a nodular haemangiomatous harmartoma and histiocytoid cell nests in the spleen were strongly suggestive of tuberous sclerosis. The relation between glomerulocystic kidney disease and tuberous sclerosis is discussed.

Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype. Many genetic syndromes associated with glomerulocystic disease have had their respective proteins localized to primary cilia or centrosomes. Transcriptional control of renal developmental pathways is dysregulated in obstructive diseases that also lead to glomerulocystic disease, emphasizing the importance of transcriptional choreography between renal development and renal cystic disease.

Autosomal recessive polycystic kidney disease (ARPKD) is an important renal disease of childhood. Congenital hypothyroidism has been associated with glomerulocystic kidney disease, but to date no association has been made with ARPKD. To our knowledge this is the first reported case of congenital hypothyroidism in an infant with ARPKD.

A 59-year-old man with hypertension and severe renal dysfunction was diagnosed as having adult glomerulocystic kidney disease. MR imaging of the kidney showed a diffuse reduction of the intensity of the renal cortex with a loss of normal cortico-medullary differentiation on T1-weighted images. Numerous small cortical cysts were also demonstrated. These MR findings complemented the results of the biopsy and were useful for making a definitive diagnosis.

Glomerulocystic kidney disease (GCKD) is a rare form of renal cystic disease characterized by cystic dilation of Bowman's capsule. The imaging findings of small renal cysts with a predominant cortical and subcapsular distribution allows for distinction from other, more common, polycystic kidney diseases. The appearance and distribution of the renal cysts by magnetic resonance imaging allow for a definitive diagnosis of GCKD.

A newborn infant with abdominal masses was found to have Glomerulocystic Kidney Disease. Imaging showed markedly enlarged kidneys with multiple macroscopic cysts. Radiographic and clinical findings are discussed.

Background Glomerulocystic kidney disease is an uncommon type of cystic renal disease. It is characterized by cortical microsysts, which are represented by cystic dilatation of Bowman's spaces. Case presentation We describe a case of glomerulocystic disease in a neonate and another in an abortus associated with tracheo-oesophageal fistula and megacystic-megaureter syndrome. The kidney on autopsy was sponge-like and revealed presence of cysts corresponding to dilatations of Bowman's space microscopically. In these two cases, the Glomerulocystic Kidney Disease in one case corresponded to a sporadic form and, in the other, to a syndromic, non-heritable form of glomerulocystic kidney disease. Conclusion The associated anomalies in Glomerulocystic Kidney disease are well described in the literature. Two more new unrelated associations are described in this article.

A case of glomerulocystic kidney disease (GCK) in an adult is reported. The patient described here had no other congenital malformations, and there was no family history of renal disease. The histopathologic findings support the glomerular origin of GCK. This case illustrated that GCK may be associated with stable renal function for many years. In view of this, GCK should be considered in the differential diagnosis of cystic kidney disease in the adult.

A case of glomerulocystic disease in a young adult with no family history or presence of other extrarenal malformations is described. Histological study revealed the presence of numerous cortical cysts corresponding to dilatations of Bowman’s space. The patient had mild stable chronic renal failure for 5 years. In our patient, the disease corresponded to a sporadic adult form of glomerulocystic disease.

Autosomal dominant (adult type) and autosomal recessive (infantile type) polycystic kidney disease are 2 distinct forms of hereditary cystic renal disease with differing pathologic and clinical features. Glomerulocystic kidney disease is probably a separate entity, whose pathologic features may closely resemble those of autosomal dominant polycystic kidney disease, especially in small infants. An example of each of these conditions in a small infant is presented, all of which had sonographically detectable cysts. Pathologic correlation was available in each case. While there are typical sonographic features of autosomal dominant and autosomal recessive polycystic kidney disease in newborn and young infants, there is no specific appearance of either condition, and glomerulocystic kidney disease can apparently resemble either one. Other investigations, particularly family studies and pathologic verification, are important in order to establish the correct diagnosis.