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4. Molecular biology and nuclear medicine in pediatric hydronephrosis

Author

Zucchetta, P., Artifoni, L., Rigamonti, W., Cecchin, D., Bui, F., and Luisa Murer

Subjects
Renin-Angiotensin System, Disease Models, Animal, Animals, Humans, Hydronephrosis, Nuclear Medicine, Child, Radionuclide Imaging, Molecular Biology, Biomarkers
Abstract

Pediatric hydronephrosis may correspond to very different clinical situations, ranging from fully benign reversible dilatation to severe obstructive nephropathy. The genetic research is difficult, mainly because the condition is probably polygenic and the embryology of the urinary system is very complex and depends on a multifaceted interaction of genetic and environmental factors. Molecular biology has gained new insights in the complicated urinary system and in the mechanisms of obstructive nephropathy. Some mediators (tumor growth factor, tumor necrosis factor, renin angiotensin system, etc.) could be considered molecular markers of obstruction and it has been proposed to introduce them in clinical decision making, in order to make an accurate selection of patients needing surgical correction. Scintigraphy has been a standard procedure in the management of pediatric hydronephrosis for decades and has been used in many clinical studies designed to evaluate the role of selected molecular markers in clinical settings. The relationships between scintigraphic parameters and molecular mediators seems promising, in particular for the evaluation of the Reanin Angiotensin System, which plays many roles in the natural history of pediatric hydronephrosis. Angiotensin up-regulation is a turning point in many pediatric hydronephrosis and can be unveiled by captopril scintigraphy, which allows a timely diagnosis of obstruction, before irreversible parenchymal injury and loss of renal function.

Published
2010

17. Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories

Author

Dalpra', L, Giardino, D, Finelli, P, Corti, C, Valtorta, C, Guerneri, S, Ilardi, P, Fortuna, R, Coviello, D, Nocera, G, Amico, F, Martinoli, E, Sala, E, Villa, N, Crosti, F, Chiodo, F, di Cantogno, L, Savin, E, Croci, G, Franchi, F, Venti, G, Donti, E, Migliori, V, Pettinari, A, Bonifacio, S, Centrone, C, Torricelli, F, Rossi, S, Simi, P, Granata, P, Casalone, R, Lenzini, E, Artifoni, L, Pecile, V, Barlati, S, Bellotti, D, Caufin, D, Police, A, Cavani, S, Piombo, G, Pierluigi, M, Larizza, L, DALPRA', LEDA, Amico, FP, di Cantogno, LV, Larizza, L., Dalpra', L, Giardino, D, Finelli, P, Corti, C, Valtorta, C, Guerneri, S, Ilardi, P, Fortuna, R, Coviello, D, Nocera, G, Amico, F, Martinoli, E, Sala, E, Villa, N, Crosti, F, Chiodo, F, di Cantogno, L, Savin, E, Croci, G, Franchi, F, Venti, G, Donti, E, Migliori, V, Pettinari, A, Bonifacio, S, Centrone, C, Torricelli, F, Rossi, S, Simi, P, Granata, P, Casalone, R, Lenzini, E, Artifoni, L, Pecile, V, Barlati, S, Bellotti, D, Caufin, D, Police, A, Cavani, S, Piombo, G, Pierluigi, M, Larizza, L, DALPRA', LEDA, Amico, FP, di Cantogno, LV, and Larizza, L.

Abstract

PURPOSE: We evaluated the experiences of 19 Italian laboratories concerning 241 small supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising from their origin from any chromosome, their variable size and genetic content, and their impact on the carrier's phenotype. METHODS: Conventional protocols were used to set up the cultures and chromosome preparations. Both commercial and homemade probes were used for the fluorescent in situ hybridization analyses. RESULTS: A total of 113 of the 241 sSMCs were detected antenatally, and 128 were detected postnatally. There were 52 inherited and 172 de novo cases. Abnormal phenotype was present in 137 cases (57%), 38 of which were antenatally diagnosed. A mosaic condition was observed in 87 cases (36%). In terms of morphology, monocentric and dicentric bisatellited marker chromosomes were the most common, followed by monocentric rings and short-arm isochromosomes. The chromosomes generating the sSMCs were acrocentric in 132 cases (69%) and non-acrocentric chromosomes in 60 cases (31%); a neocentromere was hypothesized in three cases involving chromosomes 6, 8, and 15. CONCLUSION: The presented and published data still do not allow any definite conclusions to be drawn concerning karyotype-phenotype correlations. Only concerted efforts to characterize molecularly the sSMCs associated or not with a clinical phenotype can yield results suitable for addressing karyotype-phenotype correlations in support of genetic counseling.

Published
2005

18. Renal development and cystic diseases

Author

Koleganova, N., primary, Piecha, G., additional, Nyengaard, J. R., additional, Ritz, E., additional, Gross-Weissmann, M.-L., additional, Kurultak, I., additional, Sengul, S., additional, Kocak, S., additional, Erdogmus, S., additional, Keven, K., additional, Erturk, S., additional, Erbay, B., additional, Duman, N., additional, Ismail, G., additional, Bobeica, R., additional, Zilisteanu, D., additional, Ionescu, C., additional, Rusu, E., additional, Ioanitescu, S., additional, Jurubita, R., additional, Voiculescu, M., additional, Benetti, E., additional, Centi, S., additional, Negrisolo, S., additional, Caridi, G., additional, Murer, L., additional, and Artifoni, L., additional

Published
2011
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29. Immature renal structures associated with a novel UMOD sequence variant.

Author

Benetti E, Caridi G, Vella MD, Rampoldi L, Ghiggeri GM, Artifoni L, Murer L, Benetti, Elisa, Caridi, Gianluca, Vella, Manuela Della, Rampoldi, Luca, Ghiggeri, Gian Marco, Artifoni, Lina, and Murer, Luisa

Abstract

Mutations of the UMOD gene, encoding uromodulin, have been associated with medullary cystic kidney disease 2, familial juvenile hyperuricemic nephropathy, and glomerulocystic kidney disease. We report on a 13-year-old boy presenting with chronic reduced kidney function, hyperuricemia, and impairment in urine-concentrating ability. His father was affected by an undefined nephropathy that required transplantation. The boy's renal ultrasonography showed reduced bilateral kidney volumes and cortical hyperechogenicity, with 2 tiny cysts in the left kidney. Renal biopsy showed up to 60% of glomeruli featuring an enlargement of Bowman space (glomerular cysts), with mild interstitial fibrosis (alpha-smooth muscle actin [alphaSMA] positive), inflammatory infiltrate, and focal tubular atrophy at the cortical level. At the corticomedullary junction, immature tubules (some dilated) with cytokeratin- and paired box gene 2 (PAX2)-positive immunostaining were seen, surrounded by vimentin-positive mesenchymal tissue. Unlike previously reported cases, no uromodulin-positive globular aggregates within the cytoplasm of tubular cells were observed. Uromodulin urinary excretion was absent. Genetic analysis showed a novel heterozygous sequence change in the UMOD gene (NM_003361.2:c.149G-->C; p.Cys50Ser) involving the first epidermal growth factor-like domain of the protein in both the boy and his father. This novel UMOD sequence variant, which is associated with an immunohistochemical pattern different from previous reports and a histological picture characterized by immature renal structures, suggests a possible role for UMOD in renal development. [ABSTRACT FROM AUTHOR]

Published
2009
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46. Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

Author

Leonardo Salviati, Luisa Pinello, Luisa Murer, Graziella Zacchello, Silverio Perrotta, Lina Artifoni, Orsetta Zuffardi, Elisa Benetti, Benetti, E, Artifoni, L, Salviati, L, Pinello, L, Perrotta, Silverio, Zuffardi, O, Zacchello, G, and Murer, L.

Subjects
coloboma gene deletion haploinsufficiency PAX2 gene rare kidney diseases renal coloboma syndrome renal developmental anomalies renal hypodysplasia, medicine.medical_specialty, Pathology, PAX2, Gene Dosage, Kidney, PAX2 gene, Gene dosage, Internal medicine, medicine, Humans, Child, Transplantation, Coloboma, Chromosomes, Human, Pair 10, business.industry, PAX2 Transcription Factor, Optic Nerve, Gene deletion, medicine.disease, Renal hypoplasia, Hypoplasia, Endocrinology, Nephrology, Karyotyping, renal hypodysplasia, Female, Haploinsufficiency, business, Gene Deletion, Kidney disease
Published
2007
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47. Immature Renal Structures Associated With a Novel UMOD Sequence Variant

Author

Luca Rampoldi, Gian Marco Ghiggeri, Lina Artifoni, Gianluca Caridi, Luisa Murer, Elisa Benetti, Manuela Della Vella, Benetti, E, Caridi, G, Della Vella, M, Rampoldi, L, Ghiggeri, Gm, Artifoni, L, and Murer, L

Subjects
Male, medicine.medical_specialty, Tamm–Horsfall protein, Kidney Cortex, Adolescent, Mutation, Missense, Renal function, Medullary cystic kidney disease, Nephropathy, Mucoproteins, Internal medicine, Uromodulin, Medicine, Humans, Kidney, Kidney Medulla, medicine.diagnostic_test, biology, business.industry, Kidney Diseases, Cystic, medicine.disease, Renal dysplasia, Transplantation, Endocrinology, medicine.anatomical_structure, Amino Acid Substitution, Nephrology, biology.protein, Renal biopsy, business
Abstract

Mutations of the UMOD gene, encoding uromodulin, have been associated with medullary cystic kidney disease 2, familial juvenile hyperuricemic nephropathy, and glomerulocystic kidney disease. We report on a 13-year-old boy presenting with chronic reduced kidney function, hyperuricemia, and impairment in urine-concentrating ability. His father was affected by an undefined nephropathy that required transplantation. The boy's renal ultrasonography showed reduced bilateral kidney volumes and cortical hyperechogenicity, with 2 tiny cysts in the left kidney. Renal biopsy showed up to 60% of glomeruli featuring an enlargement of Bowman space (glomerular cysts), with mild interstitial fibrosis (alpha-smooth muscle actin [alpha SMA] positive), inflammatory infiltrate, and focal tubular atrophy at the cortical level. At the corticomedullary junction, immature tubules (some dilated) with cytokeratin- and paired box gene 2 (PAX2)-positive immunostaining were seen, surrounded by vimentin-positive mesenchymal tissue. Unlike previously reported cases, no uromodulin-positive globular aggregates within the cytoplasm of tubular cells were observed. Uromodulin urinary excretion was absent. Genetic analysis showed a novel heterozygous sequence change in the UMOD gene (NM_003361.2: c.149G -> C; p.Cys50Ser) involving the first epidermal growth factor-like domain of the protein in both the boy and his father. This novel UMOD sequence variant, which is associated with an immunohistochemical pattern different from previous reports and a histological picture characterized by immature renal structures, suggests a possible role for UMOD in renal development.

Published
2009

48. Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Author

Leda Dalprà, Daniela Giardino, Palma Finelli, Cecilia Corti, Chiara Valtorta, Silvana Guerneri, Patrizia Ilardi, Renato Fortuna, Domenico Coviello, Gianfranco Nocera, Francesco Paolo Amico, Emanuela Martinoli, Elena Sala, Nicoletta Villa, Francesca Crosti, Francamaria Chiodo, Ludovica Verdun di Cantogno, Elisa Savin, Gianfranco Croci, Fabrizia Franchi, Giovanna Venti, Emilio Donti, Valeria Migliori, Antonella Pettinari, Stefania Bonifacio, Claudia Centrone, Francesca Torricelli, Simona Rossi, Paolo Simi, Paola Granata, Rosario Casalone, Elisabetta Lenzini, Lina Artifoni, Vanna Pecile, Sergio Barlati, Daniela Bellotti, Daniele Caufin, Adalgisa Police, Simona Cavani, Giuseppe Piombo, Mauro Pierluigi, Lidia Larizza, Dalpra', L, Giardino, D, Finelli, P, Corti, C, Valtorta, C, Guerneri, S, Ilardi, P, Fortuna, R, Coviello, D, Nocera, G, Amico, F, Martinoli, E, Sala, E, Villa, N, Crosti, F, Chiodo, F, di Cantogno, L, Savin, E, Croci, G, Franchi, F, Venti, G, Donti, E, Migliori, V, Pettinari, A, Bonifacio, S, Centrone, C, Torricelli, F, Rossi, S, Simi, P, Granata, P, Casalone, R, Lenzini, E, Artifoni, L, Pecile, V, Barlati, S, Bellotti, D, Caufin, D, Police, A, Cavani, S, Piombo, G, Pierluigi, M, and Larizza, L

Subjects
Genetics, Chromosome Aberrations, medicine.diagnostic_test, Neocentromere, supernumerary marker chromosomes, cooperative study, genotype–phenotype correlations, prenatal diagnosis, genetic counseling, Genetic counseling, Isochromosome, Inheritance Patterns, Chromosome, Prenatal diagnosis, Biology, Dicentric chromosome, Phenotype, Italy, medicine, Humans, Supernumerary, Genetic Testing, Genetics (clinical), In Situ Hybridization, Fluorescence, Genetic testing
Abstract

PURPOSE: We evaluated the experiences of 19 Italian laboratories concerning 241 small supernumerary marker chromosomes (sSMCs) with the aim of answering questions arising from their origin from any chromosome, their variable size and genetic content, and their impact on the carrier's phenotype. METHODS: Conventional protocols were used to set up the cultures and chromosome preparations. Both commercial and homemade probes were used for the fluorescent in situ hybridization analyses. RESULTS: A total of 113 of the 241 sSMCs were detected antenatally, and 128 were detected postnatally. There were 52 inherited and 172 de novo cases. Abnormal phenotype was present in 137 cases (57%), 38 of which were antenatally diagnosed. A mosaic condition was observed in 87 cases (36%). In terms of morphology, monocentric and dicentric bisatellited marker chromosomes were the most common, followed by monocentric rings and short-arm isochromosomes. The chromosomes generating the sSMCs were acrocentric in 132 cases (69%) and non-acrocentric chromosomes in 60 cases (31%); a neocentromere was hypothesized in three cases involving chromosomes 6, 8, and 15. CONCLUSION: The presented and published data still do not allow any definite conclusions to be drawn concerning karyotype-phenotype correlations. Only concerted efforts to characterize molecularly the sSMCs associated or not with a clinical phenotype can yield results suitable for addressing karyotype-phenotype correlations in support of genetic counseling.

Published
2005

49. SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract.

Author

Negrisolo S, Centi S, Benetti E, Ghirardo G, Della Vella M, Murer L, and Artifoni L

Subjects
Adolescent, DNA Mutational Analysis, Exons, Female, Genetic Predisposition to Disease, Humans, Male, Phenotype, Real-Time Polymerase Chain Reaction, Retrospective Studies, Risk Factors, Urogenital Abnormalities diagnosis, Vesico-Ureteral Reflux diagnosis, Young Adult, Gene Deletion, Homeodomain Proteins genetics, Mutation, Urogenital Abnormalities genetics, Vesico-Ureteral Reflux genetics
Abstract

Background: Mutations in human SIX1 gene cause branchiootorenal or branchiootic syndrome. Six1 deficient mice exhibit uni- or bilateral renal hypoplasia or kidney agenesis. Furthermore a lack of Six1 gene in the ureter leads to hydroureter and hydronephrosis. These murine malformations resemble human kidney and urinary tract congenital anomalies (CAKUT), a group of diseases with a diverse anatomical spectrum which includes duplex collecting system as much as urethra kidney and ureteropelvic anomalies. Our study focuses on whether mutations or deletion of this gene may be associated with nonsyndromic CAKUT., Methods: Fifty unrelated patients (13-21 years) with nonsyndromic CAKUT were retrospectively recruited for SIX1 sequence variations analysis, and compared to three subjects without malformative nephrouropathies (controls). SIX1 coding sequence was screened by high resolution melt analysis (HRMA) and by Sanger direct sequencing. A quantitative comparative real-time polymerase chain reaction (PCR) was later performed in order to detect the presence of SIX1 gene deletion., Results: We did not find significant differences in the HRMA melting curves for each of the SIX1 coding exons between patients and controls, as also confirmed by Sanger direct sequencing. Moreover quantitative comparative real-time PCR for SIX1 and data normalization excluded total SIX1 gene deletion in our patients., Conclusions: We did not find sequence variations in SIX1 coding regions or complete gene deletion in our CAKUT population. These results suggest that alterations in these sequences are unlikely to be a major cause of nonsyndromic CAKUT. Nevertheless, further studies are necessary to understand if altered SIX1 expression may play a role in human development of kidney and urinary tract congenital anomalies.

Published
2014
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50. mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.

Author

Benetti E, Caridi G, Centi S, Vella MD, Ghiggeri GM, Artifoni L, and Murer L

Subjects
Biopsy, Child, Female, Genetic Predisposition to Disease, Glomerulosclerosis, Focal Segmental diagnosis, Glomerulosclerosis, Focal Segmental drug therapy, Humans, Immunosuppressive Agents therapeutic use, Nephrotic Syndrome diagnosis, Nephrotic Syndrome drug therapy, Nephrotic Syndrome genetics, Phenotype, Predictive Value of Tests, Treatment Outcome, Genetic Testing methods, Glomerulosclerosis, Focal Segmental genetics, Intracellular Signaling Peptides and Proteins genetics, Introns, Membrane Proteins genetics, Mutation, Nephrotic Syndrome congenital, RNA, Messenger analysis, Sequence Analysis, DNA
Abstract

The NPHS2 gene encodes podocin, a membrane protein that acts as the structural scaffold in podocyte foot processes. NPHS2 mutations are associated with steroid-resistant nephrotic syndrome (SRNS), with the pathologic variant being focal and segmental glomerulosclerosis (FSGS), an emerging cause of end-stage renal disease in children. We describe a novel NPHS2 sequence variant in a girl with SRNS. Onset occurred at the age of seven years, with edema, hypo-proteinemia, hypoalbuminemia, hypercholesterolemia, hypertriglyceridemia and nephrotic proteinuria. Renal function was normal and autoimmunity markers were negative. Proteinuria failed to decrease after standard steroid therapy. Renal biopsy showed FSGS. Cyclosporine therapy was instituted, but no remission of proteinuria was achieved and chronic renal failure developed. Molecular analysis of the NPHS2 gene revealed a homozygous nucleotide substitution in position c.451+3A>T in intron 3-4. This nucleotide substitution has not been reported in the literature till date. The effect of the detected substitution on podocin protein was demonstrated by renal biopsy RNA extraction and cDNA amplification analysis. This technique had never been applied to a NPHS2 mutation. Based on these results, immunosuppressive drugs were discontinued and conservative therapy was undertaken.

Published
2014
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