- Acquired glomerulocystic kidney disease following hemolytic uremic syndromeF Emma
Division of Nephrology, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
Pediatr Nephrol 16:557-60. 2001..We speculate that cystic dilatation of the Bowman's capsule may be secondary to ischemic lesions leading to proximal tubular obstruction...
- Long-term linear growth of children with severe steroid-responsive nephrotic syndromeFrancesco Emma
Division of Nephrology, Children s Hospital and Research Institute Bambino Gesu, Piazza S Onofrio 4, 00165 Rome, Italy
Pediatr Nephrol 18:783-8. 2003..In conclusion, children with severe steroid-responsive NS are at risk of permanent growth retardation secondary to prolonged courses of steroid treatment...
- "Bartter-like" phenotype in Kearns-Sayre syndromeFrancesco Emma
Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
Pediatr Nephrol 21:355-60. 2006..In these cases aldosterone-responsive tubular structures have been spared during renal embryogenesis, allowing for the development of hypokalaemic alkalosis in response to salt and water losses from the more damaged tubular segments...
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam Iannicelli
Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
Hum Mutat 31:E1319-31. 2010..These exons encode for a region of unknown function in the extracellular domain of meckelin...
- RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati
Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
Clin Genet 74:164-70. 2008..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
- Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotypeA Taranta
Department of Nephrology and Urology, Division of Nephrology, Bambino Gesu Children s Hospital, Piazza S Onofrio, 4, 00165 Rome, Italy
Clin Nephrol 67:1-4. 2007..The aim of the present study was to characterize PAX2 mutations in a renal coloboma syndrome family with a highly variable phenotype...
- Serum creatinine levels are significantly influenced by renal size in the normal pediatric populationGiacomo Di Zazzo
Department of Nephrology and Urology, Division of Nephrology and Dialysis, Bambino Gesu Children s Hospital, Rome, Italy
Clin J Am Soc Nephrol 6:107-13. 2011..We hypothesized that a significant proportion of the variance in GFR, as estimated by serum creatinine, is attributable to differences in renal size in normal children...
- Broadening the spectrum of diseases related to podocin mutationsGianluca Caridi
Laboratory on Pathophysiology of Uremia, Istituto G Gaslini, 16148 Genoa, Italy
J Am Soc Nephrol 14:1278-86. 2003..A suggested alternative is the involvement of other gene(s) or factor(s)...
- Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndromeRoberta Oleggini
Department of Clinical Medicine, Nephrology and Health Sciences, University of Parma, Italy
Gene Expr 13:59-66. 2006..USF1 was identified as the transcriptional factor regulating NPHS2 at this site. Even if not sufficient to cause FSGS per se, these variants could represent modifiers for severity and/or progression of the disease...
- Glomerulocystic kidney disease in hypomelanosis of ItoGianluca Vergine
Department of Nephrology and Urology, Division of Nephrology and Dialysis, Bambino Gesu Children s Hospital and Research Institute, Piazza S Onofrio 4, Rome, Italy
Pediatr Nephrol 23:1183-7. 2008....
- COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvementFrancesca Diomedi-Camassei
Divisions of Pathology, Department of Laboratory Medicine, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
J Am Soc Nephrol 18:2773-80. 2007..COQ2 nephropathy should be suspected when electron microscopy shows an increased number of abnormal mitochondria in podocytes and other glomerular cells...
- Inflammatory response to cardiac bypass in ewe fetuses: effects of steroid administration or continuous hemodiafiltrationAdriano Carotti
Department of Pediatric Cardiology and Cardiac Surgery, Ospedale Bambino Gesu, Rome, Italy
J Thorac Cardiovasc Surg 126:1839-50. 2003....
- Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: a model of the complex relationship between ACE quantitative trait locus and pathological phenotypesPaolo Catarsi
Department of Nephrology, G Gaslini Institute, Genova, Italy
Hum Mol Genet 14:2357-67. 2005....
- Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocinRoberta Bertelli
Laboratory on Pathophysiology of Uremia, G Gaslini Children s Hospital, Genoa, Italy
Am J Kidney Dis 41:1314-21. 2003..Familial forms of FSGS do not recur, but the discovery of numerous patients with sporadic FSGS and mutations of podocin (NPHS2, that is actually an inherited disease) who received a renal graft require a re-evaluation of the problem...
- Association of the macrophage migration inhibitory factor -173*C allele with childhood nephrotic syndromeMarina Vivarelli
Unita Operativa di Nefrologia e Dialisi, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
Pediatr Nephrol 23:743-8. 2008....
- Lack of cardiac anomalies in children with NPHS2 mutationsGianluca Caridi
Nephrol Dial Transplant 22:1477-9. 2007
- Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic familyMarco Zaffanello
Department of Nephrology and Urology, Division of Nephrology and Dialysis, Children s Hospital and Research Institute Bambino Gesu, Rome, Italy
Am J Med Genet A 140:2336-40. 2006..The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes...
- Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative studyEnrica Tosetto
Division of Nephrology, Department of Medical and Surgical Sciences, University of Padua, Via Giustiniani, 2 35128 Padova, Italy
Nephrol Dial Transplant 21:2452-63. 2006....
- Cyclosporine in patients with steroid-resistant nephrotic syndrome: an open-label, nonrandomized, retrospective studyGian Marco Ghiggeri
Department of Nephrology, G Gaslini Children s Hospital, Genova, Italy
Clin Ther 26:1411-8. 2004..In the past decade, immunosuppressive drugs such as cyclosporine (CsA) and cyclophosphamide have been introduced for the treatment of SRNS, but data on long-term clinical outcome (over years) are lacking...
- Type IV Bartter syndrome: report of two new casesMarco Zaffanello
Division of Nephrology and Dialysis, Department of Nephrology and Urology, Ospedale Bambino Gesu, Piazza S Onofrio 4, 00165 Rome, Italy
Pediatr Nephrol 21:766-70. 2006..In one patient, a combined therapy with indomethacin and captopril was needed to discontinue intravenous fluids and improve weight gain...
- Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblastsLiliana Mannucci
Department of Nephrology and Urology, Bambino Gesu Children s Hospital and Research Institute, Rome, Italy
Pediatr Res 59:332-5. 2006..Together, these results support the hypothesis that cysteine derived from lysosomal cystine efflux limits the activity of the gamma-glutamyl cycle and GSH synthesis...
- Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in ItalyGianluca Caridi
Laboratory on Pathophysiology of Uremia, G Gaslini Children Hospital, Largo G Gaslini 5, 16148 Genova, Italy
Nephrol Dial Transplant 21:2301-3. 2006