Long-term follow-up of a patient with Gitelman's syndrome

Bettinelli, Alberto; Metta, Maria Gabriella; Perini, Annalia; Basilico, E; Santeramo, C

doi:10.1007/bf00861573

Cited by 34 publications

(16 citation statements)

References 5 publications

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“…Talvolta la terapia orale non è sufficiente, ed è necessario ricorrere a periodiche somministrazioni endovena di magnesio e potassio. Può esser utile, inoltre, l'impiego di diuretici antialdosteronici per la loro azione di risparmiatori di potassio (26,27). Presentiamo due casi di condrocalcinosi in corso di SG che si caratterizzano per diversità di esordio, decorso e risposta al trattamento.…”

Section: Discussioneunclassified

Gitelman syndrome associated with chondrocalcinosis: description of two cases

Gutiérrez¹,

Silveri²,

Bertolazzi³

et al. 2011

Reumatismo

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tuttavia disponibili dati certi riguardo alla prevalenza, che viene stimata tra 1.2 e 25 casi per milione (5, 6). La condrocalcinosi, come noto, è caratterizzata clinicamente da episodi di sinovite acuta o sinovite cronica, secondari al deposito di cristalli di pirofosfato diidrato di calcio a livello della cartilagine ialina e/o della fibrocartilagine (7). Diversi contributi in letteratura sottolineano l'associazione di SG e condrocalcinosi, considerata, quest'ultima, un tipico esempio di manifestazione secondaria ad ipomagnesemia (8)(9)(10)(11)(12)(13)(14). Descriviamo in seguito due casi di SG associati a condrocalcinosi, che illustrano due estremi dell'ampio ventaglio di presentazione di questa sindrome. CASO CLINICO 1Donna di 52 anni, all'età di 39 anni, per episodi ricorrenti di spasmo carpo-podalico, tetania, debolezza muscolare e parestesie prevalenti agli arti superiori, si ricovera presso la Clinica di Endocrinologia dell'Università Politecnica delle Marche, dove sulla base del quadro clinico, del rilievo di se-INTRODUZIONE L a sindrome di Gitelman (SG), descritta per la prima volta da Gitelman nel 1966 (1) è una rara tubulopatia ereditaria, trasmessa con tratto autosomico recessivo, caratterizzata da ipomagnesemia, ipopotassiemia, alcalosi metabolica, ipocalciuria ed iperaldosteronismo iperreninemico (2). Sul piano clinico può presentare un'ampia varietà di manifestazioni che procedono da un quadro sfumato di crampi, mialgie e/o debolezza muscolare, fino ad episodi di spasmo carpo-podalico, tetania e rabdomiolisi (3, 4). La mutazione responsabile della sindrome interessa il gene per la proteina NCCT (Na-Cl cotransporter), un cotrasportatore sodio-cloro presente nel tubulo contorto distale (5). La SG è considerata una malattia rara; non sono Reumatismo, 2010; 62(1)

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Section: Discussioneunclassified

Gitelman syndrome associated with chondrocalcinosis: description of two cases

Gutiérrez¹,

Silveri²,

Bertolazzi³

et al. 2011

Reumatismo

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“…The primary infantile hypomagnesaemia in our subject is readily dierentiated from Gitelman syndrome, in which the renal magnesium wasting is accompanied by hypokalaemia due to renal potassium wasting and metabolic alkalosis [3,4,28]. Gitelman syndrome (OMIM 263800), now known to be the result of homozygous recessive mutations of the thiazide-sensitive co-transporter gene [26,27], presents in later childhood and has a variable but milder degree of hypomagnesaemia [20].…”

Section: Discussionmentioning

confidence: 99%

Primary infantile hypomagnesaemia: outcome after 21 years and treatment with continuous nocturnal nasogastric magnesium infusion

Cole¹,

Kooh

Vieth³

2000

European Journal of Pediatrics

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“…Patients 2–4 were from the same kindred. GS was diagnosed by clinical features and biochemical parameters according to the diagnostic criteria of Bettinelli et al [7]. Considering phenotype overlapping between GS and classical Bartter syndrome [8], we screened these patients’ genetic mutations not only for the SLC12A3 gene but also for the CLCNKB gene, which is responsible for classical Bartter syndrome.…”

Section: Methodsmentioning

confidence: 99%

Abnormal Glucose Metabolism and Insulin Sensitivity in Chinese Patients with Gitelman Syndrome

Ren

Wang

et al. 2013

Am J Nephrol

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Background: Gitelman syndrome (GS) is an autosomal recessive disease of renal tubulopathy, primarily characterized by hypokalemic metabolic alkalosis with significant hypomagnesemia, low urinary calcium, secondary aldosteronism and normal blood pressure. Both hypokalemia and hypomagnesemia were reported to cause impaired glucose tolerance and/or insulin resistance, but it is unclear whether impaired glucose tolerance and/or insulin resistance are common in GS patients. Methods: An oral glucose tolerance test was performed among 16 GS patients and 12 healthy adults as control subjects. Fasting glucose and serum insulin levels were measured and the values of glucose and serum insulin after 30, 60, 120 and 180 min were also measured after an oral glucose load. The area under curve (AUC) of glucose and insulin was calculated. Results: One patient had isolated impaired fasting glucose, 2 had isolated impaired glucose tolerance, and 1 had combined impaired fasting glucose and glucose tolerance. Six patients were diagnosed with type 2 diabetes mellitus. Compared with a healthy normal control group, GS patients showed a higher AUC glucose level [16.1 (IQR 12.5–25.4 mEq · h/l) vs. 13.0 (IQR 11.9–13.7 mEq · h/l); p < 0.05] and AUC insulin level [81.0 (IQR 58.9–138 µU · h/ml) vs. 46.4 (IQR 35.6–63.3 µU · h/ml); p < 0.01]. GS patients showed a delay of insulin secretion peak which was observed 120 min after a glucose load. Homeostasis model assessment of insulin resistance in GS patients was significantly higher than in control volunteers. Quantitative insulin sensitivity check index and insulin sensitivity index composite in the GS group were significantly lower than in the control group. Conclusion: Abnormal glucose metabolism and insulin secretion is common in GS patients. It is speculated that hypokalemia and hypomagnesemia may be the main cause.

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Long-term follow-up of a patient with Gitelman's syndrome

Cited by 34 publications

References 5 publications

Gitelman syndrome associated with chondrocalcinosis: description of two cases

Gitelman syndrome associated with chondrocalcinosis: description of two cases

Primary infantile hypomagnesaemia: outcome after 21 years and treatment with continuous nocturnal nasogastric magnesium infusion

Abnormal Glucose Metabolism and Insulin Sensitivity in Chinese Patients with Gitelman Syndrome

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