| Long-term follow-up of patients with Bartter syndrome type I and II. | |
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MedLine Citation:
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PMID: 20219833 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 <90 mL/min/1.73 m(2) in four patients (one of them with a pathologically increased urinary protein excretion). In three patients, abdominal ultrasound detected gallstones. The group of patients with antenatal Bartter syndrome had a lower renin ratio (P < 0.05) and a higher standard deviation score (SDS) for height (P < 0.05) than a previously studied group of patients with classical Bartter syndrome. CONCLUSIONS: Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years. Gallstones might represent a new complication of antenatal Bartter syndrome. |
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Authors:
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Elena Puricelli; Alberto Bettinelli; Nicolò Borsa; Francesca Sironi; Camilla Mattiello; Fabiana Tammaro; Silvana Tedeschi; Mario G Bianchetti; |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-10 |
Journal Detail:
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Title: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association Volume: 25 ISSN: 1460-2385 ISO Abbreviation: Nephrol. Dial. Transplant. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-25 Completed Date: 2010-12-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8706402 Medline TA: Nephrol Dial Transplant Country: England |
Other Details:
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Languages: eng Pagination: 2976-81 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, San Leopoldo Mandic Hospital, Largo Mandic 1, Merate, Lecco, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Bartter Syndrome
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classification,
drug therapy,
genetics* Body Height Body Weight Child, Preschool Female Follow-Up Studies Glomerular Filtration Rate Heterozygote Homozygote Humans Infant Infant, Newborn Male Mutation / genetics* Potassium Channels, Inwardly Rectifying / genetics* Prognosis Sodium-Potassium-Chloride Symporters / genetics* Time Factors |
| Chemical | |
Reg. No./Substance:
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0/KCNJ1 protein, human; 0/Potassium Channels, Inwardly Rectifying; 0/Sodium-Potassium-Chloride Symporters; 0/sodium-potassium chloride cotransporter 2 protein |
| Investigator | |
Investigator/Affiliation:
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Silvio Maringhini / ; Paolo Porcelli / ; Marco Materassi / ; Maria Renata Proverbio / ; Nunzia Miglietti / ; Maria Gabriella Porcellini / ; Carla Navone / ; Giuseppe Ruffa / ; Aldo Rosini / ; Aurora Rossodivita / |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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