scholarly journals Glomerulocystic Kidney Disease and Hepatoblastoma in an Infant: A Rare Presentation

2015 ◽  
Vol 5 (3) ◽  
pp. 200-203 ◽  
Author(s):  
Rumina Zaman ◽  
Alec Maggi ◽  
Sudeep K. Rajpoot ◽  
Divya-Devi Joshi
Keyword(s):  
Growth Factors ◽  
Growth Factor ◽  
Kidney Disease ◽  
Renal Cysts ◽  
Rare Condition ◽  
Simultaneous Presentation ◽  
Rare Presentation ◽  
Glomerulocystic Kidney Disease ◽  
Glomerulocystic Kidney ◽  
Insulin Like Growth Factors

Glomerulocystic kidney disease (GCKD) is a rare condition comprising heritable and nonheritable types [Oh et al.: Nephron 1986;43:299-302]. Hepatoblastoma is a sporadically occurring tumor of embryonal origin that is associated with overgrowth syndrome and renal cysts. A concurrent presentation of GCKD with hepatoblastoma was first described in 1989 [Rao et al.: Jpn J Surg 1989;19:583-585]. We report the simultaneous presentation of hepatoblastoma and GCKD in a 5-month-old child and explore the probability of insulin-like growth factors, insulin-like growth factor-binding protein and Beckwith-Wiedemann gene mutation as a putative cause.

scholarly journals Dominantly transmitted glomerulocystic kidney disease: a distinct genetic entity.

1997 ◽  
Vol 8 (1) ◽  
pp. 77-84
Author(s):  
C K Sharp ◽  
S M Bergman ◽  
J M Stockwin ◽  
M L Robbin ◽  
C Galliani ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Age Of Onset ◽  
Genetic Locus ◽  
Rare Condition ◽  
Older Children ◽  
Glomerulocystic Kidney Disease ◽  
Heritable Disorder ◽  
Autosomal Dominant Polycystic Kidney ◽  
Glomerulocystic Kidney

Glomerulocystic kidney disease (GCKD) is a relatively rare condition with both a sporadic and familial occurrence. Pathologically, GCKD is characterized by cystic dilatation of Bowman's space and the initial proximal convoluted tubule. As a heritable disorder, GCKD has primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (ADPKD). Dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. A large, three-generation African-American family with familial GCKD is characterized. Of the 20 individuals available for study, seven affected individuals were identified by renal sonogram or renal histopathology. GCKD in this family segregates as an autosomal dominant trait as evidenced by its apparent transmission from a father to his sons. A set of directed linkage strategies indicates that the distinctive GCKD phenotype in this family results from a dominantly acting mutation that disrupts a genetic locus distinct from the ADPKD loci, PKD1 and PKD2, as well the human homologue of mouse jcpk mutation, a newly described murine GCKD. These analyses are the first known genetic studies conducted in a family with heritable GCKD and post-infantile age of onset.

Clinical and genetic features of glomerulocystic kidney in childhood

2020 ◽  
Vol 24 (3) ◽  
pp. 54-63
Author(s):  
E. F. Andreeva ◽  
N. D. Savenkova
Keyword(s):  
Kidney Disease ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Renal Cysts ◽  
Cortical Layer ◽  
Diagnostic Methods ◽  
Glomerulocystic Kidney Disease ◽  
Classification Of Diseases ◽  
Extrarenal Manifestations ◽  
Glomerulocystic Kidney

The review provides historical information on the study of renal cystosis that occurs with glomerular cysts, discusses terminology issues and classification of diseases that occur with glomerulocystic kidney. The course features, diagnostic methods, treatment, and prognosis of renal glomerulocystosis in children, renal and extrarenal manifestations of two subtypes of hereditary glomerulocystic kidney disease: autosomal dominant glomerulocystic kidney disease associated with mutations of uromodulin (OMIM 609886) and familial hypoplastic glomerulocystic kidney disease associated with mutations of the HNF-1β (TCF2) gene (OMIM 137920). Diagnostic tetrad of familial hypoplastic glomerulocystic kidney disease, features of course and prognosis of HNF-1β-associated kidney disease with very early onset (VEO), MODY5 diabetes caused by HNF-1β mutation and 17q12 microdeletion syndrome in children were detected. According to the results of ultrasound examination (US), the fetus and newborn reveal hyperechogenicity of the kidney parenchyma, the volume of which is increased or corresponds to normal values. Renal cysts in glomerulocystic kidney are small, located in the cortical layer or subcapsularly, single or multiple, rarely diagnosed in the neonatal period. In young children, US shows a picture of increasing hyperechogenicity of the parenchyma with visualization of renal cysts in the cortical layer or subcapsularly, a decrease in the volume or asymmetry in the size of the kidneys. Urinary syndrome in glomerulocystic kidney in childhood is characterized by hematuria, microproteinuria, magniuria and uraturia in combination with hypostenuria and polyuria. Molecular genetic research reveals the mutation of genes responsible for the development of inherited diseases that occur with glomerulocystic kidney, and largely determines the prognosis and management tactics of the patient. A systematic approach is needed in the diagnosis and treatment of glomerulocystic kidney in children in order to slow the progression of chronic kidney disease and extrarenal manifestations, and to maintain continuity of observation of patients in pediatric and adult nephrological structures.

Influence of insulin-like growth factor-binding protein-2 on plasma clearance and transfer of insulin-like growth factors-I and -II from plasma into mammary-derived lymph and milk of goats

1996 ◽  
Vol 150 (1) ◽  
pp. 121-127 ◽  
Author(s):  
C G Prosser ◽  
J Schwander
Keyword(s):  
Growth Factors ◽  
Growth Factor ◽  
Plasma Clearance ◽  
Binding Protein ◽  
Plasma Concentrations ◽  
Insulin Like Growth Factor ◽  
Factor Binding ◽  
Lactating Goats ◽  
Igf I ◽  
Insulin Like Growth Factors

Abstract Plasma clearance of insulin-like growth factors-I and -II (IGF-I and -II) and insulin-like growth factor-binding protein-2 (IGFBP-2) from lactating goats (n=4) was determined following a single intravenous injection of the corresponding 125I-labelled human protein. Transfer of these proteins out of the vascular space was monitored by their subsequent appearance in mammary-derived lymph and milk. Clearance of 125I-IGFBP-2 from circulation was 0·37 ± 0·06 ml/min/kg, which is markedly greater than that of 125I-IGF-I or -II (0·11 ± and 0·12 ± 0·01 ml/min/kg respectively). This was also reflected in longer elimination half-lives for IGF-I (353 ± 6 min) and -II (254 ± 8 min) compared with IGFBP-2 (110 ± 9 min). Three hours after injection of the 125I-labelled protein, the plasma:lymph ratio of trichloroacetic acid-precipitable radioactivity was 1·54 ±0·04, 3·3 ±0·6 and 4·1 ±0·4 for IGFBP-2, IGF-I and -II respectively. The form of 125I-IGFBP-2 in lymph was not different from that of plasma. Elevation of plasma concentrations of IGFBP-2 by its intravenous infusion significantly decreased plasma half-life of both IGF-I and -II (251 ± 8 and 198 ±7 min respectively). Although the amount and rate of transfer of IGF into mammary-derived lymph was decreased slightly by IGFBP-2, concentrations eventually obtained were not different from control. However, secretion of IGFs into milk was significantly reduced by IGFBP-2, particularly in the case of IGF-I. These results are consistent with the ability of all three compounds to cross the vascular endothelium intact and of IGFBP-2 to decrease the uptake of IGF by mammary epithelium and subsequent secretion into milk. IGFBP-2 may well have acted to target plasma IGF towards non-mammary tissues, thus explaining the more rapid plasma clearance of IGFs in the presence of elevated IGFBP-2. Journal of Endocrinology (1996) 150, 121–127

scholarly journals Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

2016 ◽  
Vol 99 (1) ◽  
pp. 174-187 ◽  
Author(s):  
Nikhita Ajit Bolar ◽  
Christelle Golzio ◽  
Martina Živná ◽  
Gaëlle Hayot ◽  
Christine Van Hemelrijk ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Loss Of Function ◽  
Glomerulocystic Kidney Disease ◽  
Glomerulocystic Kidney
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