Sclerochoroidal calcification associated with Gitelman syndrome

Bourcier, Tristan; Blain, Pierre; Massin, Pascale; Grünfeld, Jean‐Pierre; Gaudric, Alain

doi:10.1016/s0002-9394(99)00277-9

Cited by 47 publications

(19 citation statements)

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“…Associations have also been reported with nephrologic pathology such as Bartter’s [2] and Gitelman’s syndromes [3]. Therefore, thyroid hormone levels, calcium and phosphorus levels, magnesium levels, and BUN and creatinine are all recommended for patients suspected to have sclerochoroidal calcifications.…”

Section: Resultsmentioning

confidence: 99%

Bilateral Idiopathic Sclerochoroidal Calcifications

Brahma¹,

Shah²,

Chaudhry³

et al. 2017

TOOPHTJ

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Background:Sclerochoroidal calcification (SCC) is a rare and benign condition found mostly in middle-aged and elderly Caucasian men, characterized by multiple yellow-white lesions seen most commonly in the temporal regions of the fundus. While they may be concerning for benign tumors, primary neoplasias or metastases, SCCs most commonly present as asymptomatic findings during routine ophthalmologic testing and have a very good prognosis as they rarely cause visual deficits.Objective:To report and describe the findings in a case of bilateral idiopathic sclerochoroidal calcifications.Methods:A retrospective case report.Results:Repeated ophthalmological exams, including fundoscopic examination, ultrasonography, optical coherence tomography and fluorescein angiography, were all consistent bilateral idiopathic sclerochoroidal calcifications.Conclusion:While most cases of idiopathic sclerochoroidal calcifications represent a benign ophthalmological condition, there are known associations with other systemic conditions, such as hyperthyroidism, hyperparathyroidism, Bartter’s syndrome and Gitelman’s syndrome. It is for this reason that these patients warrant a full systemic work-up in addition to careful ophthalmological monitoring.

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Section: Resultsmentioning

confidence: 99%

Bilateral Idiopathic Sclerochoroidal Calcifications

Brahma¹,

Shah²,

Chaudhry³

et al. 2017

TOOPHTJ

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“…35 Complications of GS include chondrocalcinosis 36 and sclerochoroidal calcifications. 37 This is because magnesium ions increase the solubility of calcium pyrophosphate crystals and are important activators for tissue-nonspecific alkaline phosphatase, which hydrolyzes pyrophosphates (PPi) into inorganic phosphate (Pi), hence hypomagnesemia may promote the formation of calcium pyrophosphate crystals in joints and sclera. 38 In addition, increased renal calcium reabsorption may contribute to calcium deposition, and patients with GS have higher bone mineral density, similar to chronic thiazide treatment, associated with a decreased rate of bone remodeling.…”

Section: Clinical Manifestations and Workupmentioning

confidence: 99%

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Blanchard

Böckenhauer

Bolignano

et al. 2017

Kidney International

263

346

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Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations. GS is usually managed by a liberal salt intake together with oral magnesium and potassium supplements. A general problem in rare diseases is the lack of high quality evidence to inform diagnosis, prognosis, and management. We report here on the current state of knowledge related to the diagnostic evaluation, follow-up, management, and treatment of GS; identify knowledge gaps; and propose a research agenda to substantiate a number of issues related to GS. This expert consensus statement aims to establish an initial framework to enable clinical auditing and thus improve quality control of care.

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“…Other clinical features of Gitelman's syndrome has been recently recognized, including short stature (91,92), chondrocalcinosis with calcium pyrophosphate dihydrate crystal deposition disease, and sclerochoroidal calcifications, all of which appear to be influenced by the degree of hypomagnesemia (93)(94)(95)(96)(97). Pregnancy 857 is usually successful in Gitelman's syndrome, and several cases have been diagnosed in patients who develop severe hypokalemia and hypomagnesemia during their pregnancies; in contrast to Bartter's syndrome, Gitelman's syndrome is usually accompanied with oligohydramnios during pregnancy (98).…”

Section: Gitelman's Syndromementioning

confidence: 99%

Renal Genetic Disorders Related to K⁺ and Mg²⁺

Warnock

2002

Annu. Rev. Physiol.

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The recent knowledge of the renal epithelial transport systems has exploded with the identification, cloning, and characterization of a large number of membrane transport proteins. The fundamental aspects of these transporters are beginning to emerge at the molecular level and are summarized in the accompanying contributions in this volume of the Annual Review of Physiology. The aim of my review is to integrate this body of knowledge with the understanding of the clinical disorders of human mineral homeostasis that accompany gain, loss, or dysregulation of function of these transport systems. The specific focus is on the best defined human clinical syndromes in which there are derangements in K(+) and Mg(2+) homeostasis.

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Sclerochoroidal calcification associated with Gitelman syndrome

Cited by 47 publications

References 3 publications

Bilateral Idiopathic Sclerochoroidal Calcifications

Bilateral Idiopathic Sclerochoroidal Calcifications

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Renal Genetic Disorders Related to K⁺ and Mg²⁺

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Sclerochoroidal calcification associated with Gitelman syndrome

Cited by 47 publications

References 3 publications

Bilateral Idiopathic Sclerochoroidal Calcifications

Bilateral Idiopathic Sclerochoroidal Calcifications

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Renal Genetic Disorders Related to K+ and Mg2+

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Renal Genetic Disorders Related to K⁺ and Mg²⁺