Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome
1 Assistance Publique-Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires (MARHEA), Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris 75015, France
2 Service de Néphrologie Pédiatrique et médecine interne, Hôpital d’Enfants, Toulouse, France
3 Assistance Publique-Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France
4 Université Paris Descartes, Faculté de Médecine, Paris, France
5 INSERM, UMR970, centre de recherché cardio-vasculaire, Paris, France
BMC Pediatrics 2014, 14:201 doi:10.1186/1471-2431-14-201Published: 11 August 2014
Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of Fanconi syndrome and an early polyuria since the neonatal period. We discuss in this article the atypical electrolytes losses found in our patient, as well as the possible mechanisms of severe polyuria.
A 6-year-old Caucasian girl was admitted via the Emergency department for vomiting, and initial laboratory investigations found hyponatremia, hypokalemia, metabolic acidosis with normal anion gap, hypophosphatemia, and hypouricemia. Urinalysis revealed Na, K, Ph and uric acid losses. Thus, the initial biological profile was in favor of a proximal tubular defect. However, etiological investigations were inconclusive and the patient was discharged with potassium chloride and phosphorus supplementation. Three weeks later, further laboratory analysis indicated persistent hypokalemia, a metabolic alkalosis, hypomagnesemia, and hypocalciuria. We therefore sequenced the SLC12A3 gene and found a compound heterozygosity for 2 known missense mutations.
Gitelman syndrome can have varying and sometimes atypical presentations, and should be suspected in case of hypokalemic tubular disorders that do not belong to any obvious syndromic entity. In this case, the proximal tubular dysfunction could be secondary to the severe hypokalemia. This report emphasizes the need for clinicians to repeat laboratory tests in undiagnosed tubular disorders, especially not during decompensation episodes.