Research Topics
| I PelaSummaryAffiliation: University of Florence Country: Italy Publications
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Publications
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndromeI Pela
Department of Pediatrics, Pediatric Nephrology Unit, University of Florence, Italy
Clin Nephrol 69:450-3. 2008..A possible explanation could be the defective action of the disrupted pendrin, which exacerbates the effects of the inhibition of C1(-) reabsorption mediated by the thiazide-sensitive NaCl cotransporter (SLC12A3)...
Hyperammonemia in distal renal tubular acidosis: is it more common than we think?I Pela
Department of Pediatrics, Pediatric Nephrology, University of Florence, Italy
Clin Nephrol 68:109-14. 2007....
Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newbornIvana Pela
Department of Paediatrics, University of Florence, Azienda Meyer, Florence, Italy
Pediatr Nephrol 23:155-8. 2008..Only a few cases of acute renal failure due to acute hyperuricemic nephropathy related to HPRT deficiency have previously been reported in infants, and there are no reported cases in newborns as young as 3 days old...
Hypokalemic rhabdomyolysis in a child with Bartter's syndromeIvana Pela
Pediatric Nephrology, Department of Pediatrics, University of Florence, Firenze, Italy
Pediatr Nephrol 20:1189-91. 2005..Prompt intravenous fluid and potassium prevented tubular damage and acute renal failure. We recommend determining serum creatine phosphokinase in all patients affected by Bartter's syndrome and profound hypokalemia...
The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patientSabrina Malvagia
Department of Paediatrics, University of Florence, 50132 Florence, Italy
Pediatr Res 54:635-40. 2003..DNA analysis in the proband's parents did not identify this amino acid substitution, suggesting a de novo genetic lesion. From these data it can be hypothesized that the Q167K mutation has a dominant negative effect...
Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiencyM V Micheletti
Pediatric Nephrology, Department of Pediatrics, University of Florence, Meyer Hospital, Florence, Italy
Clin Nephrol 76:68-73. 2011..We hypothesize that defects of oxidative phosphorylation could be another etiological factor in atypical HUS...
Hyperammonaemia in a child with distal renal tubular acidosisD Seracini
Paediatric Nephrology, Department of Paediatrics, University of Florence, Via Luca Giordano 13, 50132 Florence, Italy
Pediatr Nephrol 20:1645-7. 2005..Our case confirms that hyperammonaemia may be observed in distal RTA, mimicking an inborn error of metabolism, and it underlines that hyperammonaemia may persist several days after metabolic acidosis correction...
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuriaI Pela
Pediatric Nephrology Unit, Department of Pediatrics, University of Florence, Florence, Italy
J Inherit Metab Dis 24:681-2. 2001..We conclude that treatment with ramipril can be employed effectively and safely in GSD Ia patients with nephrotic-range proteinuria...
Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal functionI Pela
Department of Pediatrics, University of Florence, Via Luca Giordano 13, 50132 Firenze, Italy
Clin Nephrol 66:63-6. 2006..In both children, hyporeninemic hypoaldosteronism and hyperkalemia disappeared after 6 months of good metabolic control...
Hemolytic uremic syndrome in an infant following Bordetella pertussis infectionI Pela
Pediatric Nephrology Unit, Department of Pediatrics, University of Florence, 13 Via Luca Giordano, 50132 Florence, Italy
Eur J Clin Microbiol Infect Dis 25:515-7. 2006..The clinical outcome was favorable with no renal consequences. This case suggests there may be a direct cause-effect relationship between B. pertussis infection and hemolytic uremic syndrome...
Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta geneSabrina Giglio
Medical Genetics Section, Department of Clinical Pathophysiology, University of Florence, Italy
Nephrol Dial Transplant 25:3116-9. 2010..This is particularly important in regard to genetic counselling...
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genesIlaria Carboni
Department of Clinical Pathophysiology, University of Florence, Italy
Nephrol Dial Transplant 24:2734-8. 2009..Both autosomal dominant and autosomal recessive forms have been described, the latter is also associated with sensorineural hearing loss...
No clear evidence of ACEi efficacy on the progression of chronic kidney disease in children with hypodysplastic nephropathy--report from the ItalKid Project databaseGianluigi Ardissino
Unit of Pediatric Nephrology, Dialysis and Transplantation, Department of Pediatrics, Via Commenda 9, I 20122 Milano, Italy
Nephrol Dial Transplant 22:2525-30. 2007..The aim of this study was to investigate whether patients with hypodysplastic CKD (the most common cause of ESRF in children) treated with ACEi show a significantly slower decline in creatinine clearance (Ccr)...
Perinatal care at an extremely low gestational age (22-25 weeks). An Italian approach: the "Carta di Firenze"Maria Serenella Pignotti
Neonatal Medicine, University of Florence, Florence, Italy
Arch Dis Child Fetal Neonatal Ed 92:F515-6. 2007
Hypercalcemia and distal renal tubular acidosis: an association not only in the newbornIvana Pela
Pediatr Nephrol 18:850. 2003
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?Ivana Pela
Pediatrics, Meyer Hospital, Via Luca Giordano 13, Florence 50135, Italy
Pediatr Nephrol 23:163-8. 2008..Furthermore, peritoneal dialysis can be administered quickly and easily in all settings, clearly an advantage when fast intervention is so crucial...
Risk factors for poor renal prognosis in children with hemolytic uremic syndromeAlessandra Gianviti
Division of Nephrology and Dialysis, Bambino Gesù Children s Hospital and Institute for Scientific Research, Rome, Italy
Pediatr Nephrol 18:1229-35. 2003..In conclusion, absence of both D and evidence of STEC infection are needed to identify patients with HUS and worst prognosis, while D(-) but STEC(+) patients have a significantly better prognosis...
New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndromeRita Bini
Pediatrics Unit, Ospedale della Misericordia, Grosseto, Italy
Am J Med Genet A 127:183-5. 2004..Moreover, our case shows that clinical manifestations of hypothyroidism may be present and the treatment may be necessary as it is in isolated congenital hypothyroidism...
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcomeAlberto Bettinelli
Pediatric Renal Unit and Laboratory of Medical Genetics, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, IRCCS
Am J Kidney Dis 49:91-8. 2007..Little information on the management and long-term follow-up of patients with biallelic mutations in the chloride channel gene CLCNKB is available...
Hyponatraemic-hypertensive syndrome in a 15-month-old child with renal artery stenosisDaniela Seracini
Paediatric Nephrology, Meyer Hospital, Via Luca Giordano 13, Florence, 50135, Italy
Pediatr Nephrol 21:1027-30. 2006..Our case confirms that renovascular hypertension may rarely also be present with HHS in children and that metabolic and morphological alterations are reversible after the resolution of arterial stenosis...
Prescription of drugs blocking the renin-angiotensin system in Italian childrenMario G Bianchetti
Servizio Integrato di Pediatria, Ospedali di Bellinzona e Mendrisio, Svizzera, Milan, Italy
Pediatr Nephrol 22:144-8. 2007..0005). In conclusion, physicians caring for Italian children with impaired kidney function are increasingly prescribing drugs blocking the renin-angiotensin system...
