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1. Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus

Author

Silverio Perrotta, Marie Louise Syren, Silvana Tedeschi, Rossella Gaudino, Marco Zaffanello, Evelina Maines, Milena Brugnara, Brugnara, M, Gaudino, R, Tedeschi, S, Syrèn, Ml, Perrotta, Silverio, Maines, E, and Zaffanello, M.

Subjects
Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Metabolic alkalosis, Diabetes insipidus, urologic and male genital diseases, Bartter syndrome, Endocrinology, Polyuria, Internal medicine, medicine, Humans, Hypercalciuria, Solute Carrier Family 12, Member 3, business.industry, Bartter Syndrome, Infant, Gitelman syndrome, medicine.disease, Hyperaldosteronism, Hypokalemia, Diabetes Insipidus, Neurogenic, Pediatrics, Perinatology and Child Health, medicine.symptom, business, Gitelman Syndrome
Abstract

We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the CLCNKB gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the AVP-NPII gene showed a point mutation (c.1884G>A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient’s phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the SLC12A3 gene showed c.269A>C and c.1205C>A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.

Published
2014

2. Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.

Author

Corbetta S, Raimondo F, Tedeschi S, Syrèn ML, Rebora P, Savoia A, Baldi L, Bettinelli A, and Pitto M

Subjects
Adolescent, Adult, Bartter Syndrome urine, Blotting, Western, Case-Control Studies, Child, Child, Preschool, Female, Gitelman Syndrome urine, Humans, Male, Solute Carrier Family 12, Member 3 urine, Young Adult, Bartter Syndrome diagnosis, Biomarkers urine, Exosomes metabolism, Gitelman Syndrome diagnosis, Solute Carrier Family 12, Member 1 urine
Abstract

Background: Gitelman syndrome (GS) and Bartter syndrome (BS) are hereditary salt-losing tubulopathies (SLTs) resulting from defects of renal proteins involved in electrolyte reabsorption, as for sodium-chloride cotransporter (NCC) and furosemide-sensitive sodium-potassium-chloride cotransporter (NKCC2) cotransporters, affected in GS and BS Type 1 patients, respectively. Currently, definitive diagnosis is obtained through expensive and time-consuming genetic testing. Urinary exosomes (UE), nanovesicles released by every epithelial cell facing the urinary space, represent an ideal source of markers for renal dysfunction and injury, because UE molecular composition stands for the cell of origin. On these assumptions, the aim of this work is to evaluate the relevance of UE for the diagnosis of SLTs., Methods: UE were purified from second morning urines collected from 32 patients with genetically proven SLTs (GS, BS1, BS2 and BS3 patients), 4 with unclassified SLTs and 22 control subjects (age and sex matched). The levels of NCC and NKCC2 were evaluated in UE by SDS-PAGE/western blotting with specific antibodies., Results: Due to their location on the luminal side of tubular cells, NCC and NKCC2 are well represented in UE proteome. The NCC signal is significantly decreased/absent in UE of Gitelman patients compared with control subjects (Mann-Whitney t-test, P < 0.001) and, similarly, the NKCC2 in those of Bartter type 1 (P < 0.001). The difference in the levels of the two proteins allows recognition of Gitelman and Bartter type 1 patients from controls and, combined with clinical data, from other Bartter patients. Moreover, the receiver operating characteristic curve analysis using UE NCC densitometric values showed a good discriminating power of the test comparing GS patients versus controls and BS patients (area under the curve value = 0.92; sensitivity 84.2% and specificity 88.6%)., Conclusions: UE phenotyping may be useful in the diagnosis of GS and BS, thus providing an alternative/complementary, urine-based diagnostic tool for SLT patient recognition and a diagnostic guidance in complex cases., (© The Author 2014. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)

Published
2015
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