Long-term follow-up of patients with Bartter syndrome type I and II
| Autor: | Elena, Puricelli, Alberto, Bettinelli, Nicolò, Borsa, Francesca, Sironi, Camilla, Mattiello, Fabiana, Tammaro, Silvana, Tedeschi, Mario G, Bianchetti, Aurora, Rossodivita |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Male
Heterozygote medicine.medical_specialty Time Factors Sodium-Potassium-Chloride Symporters Urinary system Renal function Bartter syndrome Gastroenterology Internal medicine medicine Humans Potassium Channels Inwardly Rectifying Solute Carrier Family 12 Member 1 Transplantation business.industry Body Weight Homozygote Infant Newborn Bartter Syndrome Infant Gestational age Gallstones Prognosis medicine.disease Body Height Surgery Bartter's syndrome Nephrology Child Preschool Mutation Female business Complication Follow-Up Studies Glomerular Filtration Rate Kidney disease |
| Zdroj: | Puricelli, Elena; Bettinelli, Alberto; Borsa, Nicolò; Sironi, Francesca; Mattiello, Camilla; Tammaro, Fabiana; Tedeschi, Silvana; Bianchetti, Mario G (2010). Long-term follow-up of patients with Bartter syndrome type I and II. Nephrology, dialysis, transplantation, 25(9), pp. 2976-2981. Oxford: Oxford University Press 10.1093/ndt/gfq119 |
| DOI: | 10.1093/ndt/gfq119 |
| Popis: | BACKGROUND: Little information is available on a long-term follow-up in Bartter syndrome type I and II. METHODS: Clinical presentation, treatment and long-term follow-up (5.0-21, median 11 years) were evaluated in 15 Italian patients with homozygous (n = 7) or compound heterozygous (n = 8) mutations in the SLC12A1 (n = 10) or KCNJ1 (n = 5) genes. RESULTS: Thirteen new mutations were identified. The 15 children were born pre-term with a normal for gestational age body weight. Medical treatment at the last follow-up control included supplementation with potassium in 13, non-steroidal anti-inflammatory agents in 12 and gastroprotective drugs in five patients. At last follow-up, body weight and height were within normal ranges in the patients. Glomerular filtration rate was |
| Databáze: | OpenAIRE |
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