Renal phosphate handling in Gitelman syndrome—the results of a case–control study
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- 作者：Cristina Viganò (1)
Chiara Amoruso (2) (3)
Francesco Barretta (4) (5)
Giuseppe Minnici (1)
Walter Albisetti (6)
Marie-Louise Syrèn (4) (7)
Mario G. Bianchetti (8) (9)
Alberto Bettinelli (2) - 关键词：Gitelman syndrome ; Hypokalemia ; Hypomagnesemia ; Hypophosphatemia ; Renal phosphate wasting
- 刊名：Pediatric Nephrology
- 出版年：2013
- 出版时间：January 2013
- 年：2013
- 卷：28
- 期：1
- 页码：65-70
- 全文大小：537KB
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Chiara Amoruso (2) (3)
Francesco Barretta (4) (5)
Giuseppe Minnici (1)
Walter Albisetti (6)
Marie-Louise Syrèn (4) (7)
Mario G. Bianchetti (8) (9)
Alberto Bettinelli (2)
1. Division of Orthopedics, San Leopoldo Mandic Hospital, Merate, Lecco, Italy
2. Division of Pediatrics, San Leopoldo Mandic Hospital, Merate, Lecco, Italy
3. Department of Pediatrics, De Ponti Hospital, University of Insubria, Varese, Italy
4. Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
5. Epidemiology Unit, Department of Preventive Medicine, Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy
6. Department of Clinical Orthopedics and Rehabilitation, University of Milan, Milan, Italy
7. Laboratory of Medical Genetics, Foundation IRCCS Ca-Granda Ospedale Maggiore Policlinico, Milan, Italy
8. Division of Pediatrics, Bellinzona and Mendrisio hospitals, University of Bern, Bern, Switzerland
9. San Giovanni Hospital, 6500, Bellinzona, Switzerland - ISSN：1432-198X
文摘
Background Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule. Since the bulk of filtered phosphate is reabsorbed in the proximal tubule, renal phosphate wasting is considered exceptional in Gitelman syndrome. Methods We investigated the renal handling of inorganic phosphate in 12 unselected Italian patients affected with Gitelman syndrome (5 females and 7 males, aged 6.0-8 years, median age 12?years) and in 12 healthy subjects matched for gender and age (controls). The diagnosis of Gitelman syndrome among the patients had been made clinically and confirmed by molecular biology studies. Results The biochemical hallmarks of Gitelman syndrome, namely hypochloremia, hypokalemia, hypomagnesemia, increased urinary excretion of sodium, chloride, potassium and magnesium and reduced urinary excretion of calcium, were present in the 12 patients. In addition, both the plasma inorganic phosphate concentration (median and interquartile range: 1.28 [1.12-.36] vs. 1.61 [1.51-.66)] mmol/L) and the maximal tubular reabsorption of inorganic phosphate (1.08 [0.99-.22] vs. 1.41 [1.38-.47] mmol/L) were significantly lower (P-lt;-.001) in Gitelman patients than in control subjects. Circulating levels of 25-hydroxyvitamin D, intact parathyroid hormone and osteocalcin were similar in patients and controls. Conclusions The results of our case–control study disclose a hitherto unrecognized tendency towards renal phosphate wasting with mild to moderate hypophosphatemia in Gitelman syndrome.