A Case of Gitelman's Syndrome with Chondrocalcinosis.

Hisakawa, Naoko; Yasuoka, Nobukazu; Itoh, Hiroyuki; Takao, Toshihiro; Jinnouchi, Chisa; Nishiya, Koji; Hashimoto, Kozo

doi:10.1507/endocrj.45.261

Cited by 33 publications

(13 citation statements)

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“…1, the radiographs of the knees demonstrated bilateral calcification in the cartilage, a picture compatible with the diagnosis of chondrocalcinosis, which has recently been reported in several cases of GS [9][10][11]. EEG, MRI and 99mTc-ECD SPECT studies of the brain showed no finding accounting for the loss of consciousness.…”

Section: Case Reportsupporting

confidence: 60%

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

et al. 2006

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Abstract. An 80-year-old man was referred to our department for evaluation of repetitive loss of consciousness and faintness with hypokalemia. He had relatively low blood pressure, hypomagnesemia, hypocalciuria and chondrocalcinosis in the knee, clinically suggesting Gitelman's syndrome. A renal clearance study could not be carried out due to the patient's age and complications of the heart. Sequence analysis of the gene of thiazide-sensitive Na-Cl cotransporter (TSC) showed a heterozygous missense mutation from C to T at 1712 base pairs from the translation start site, with resultant changes in codon 569 from alanine to valine (A569V). Treatment with oral administration of potassium chloride improved all the symptoms. Although Gitelman's syndrome has been considered to be autosomal recessive, cases of only heterozygous mutation detected have recently been reported. Therefore, the mutation found in this patient may be responsible for Gitelman's syndrome.

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Section: Case Reportsupporting

confidence: 60%

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

et al. 2006

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“…Remarkably, some patients are completely asymptomatic except for the appearance of chondrocalcinosis at adult age. 5,6 A minority of patients with GS have a mutation in the CLCNKB gene, coding for chloride channel subunit b (ClC-Kb). In most cases, GS results from loss-of-function mutations in the solute carrier family 12, member 3 (SLC12A3) gene, which consists of 26 exons and is located on the long arm of chromosome 16 (16q13).…”

Section: Introductionmentioning

confidence: 99%

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

et al. 2011

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Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) gene that encodes the thiazide-sensitive NaCl cotransporter (NCC). We analyzed DNA samples of 163 patients with a clinical suspicion of GS by direct sequencing of all 26 exons of the SLC12A3 gene. In total, 114 different mutations were identified, 31 of which have not been reported before. These novel variants include 3 deletions, 18 missense, 6 splice site and 4 nonsense mutations. We selected seven missense mutations to investigate their effect on NCC activity and plasma membrane localization by using the Xenopus laevis oocyte expression system. The Thr392Ile mutant did not display transport activity (probably class 2 mutation), while the Asn442Ser and Gln1030Arg NCC mutants showed decreased plasma membrane localization and consequently function, likely due to impaired trafficking (class 3 mutation). Even though the NaCl uptake was hampered for NCC mutants Glu121Asp, Pro751Leu, Ser475Cys and Tyr489His, the transporters reached the plasma membrane (class 4 mutation), suggesting an effect on NCC regulation or ion affinity. The present study shows the identification of 38 novel mutations in the SLC12A3 gene and provides insight into the mechanisms that regulate NCC.

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“…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.…”

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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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A Case of Gitelman's Syndrome with Chondrocalcinosis.

Cited by 33 publications

References 13 publications

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

Loss of Consciousness and Hypokalemia in an Elderly Man with a Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

Gitelman syndrome associated with chondrocalcinosis: description of two cases

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