Bartter’s and Gitelman’s diseases

Favero, Marta; Calò, Lorenzo A.; Schiavon, Franco; Punzi, Leonardo

doi:10.1016/j.berh.2011.10.013

Cited by 23 publications

(10 citation statements)

References 45 publications

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“…This risk is likely because of the combination of hypokalemia and hypomagnesemia [11] and myocardial dysfunction [12,13], accentuated by a combination of left ventricular dysfunction, impaired myocardial perfusion and myocardial contractile recruitment [13]. Calcium pyrophosphate deposition including chondrocalcinosis has also been reported in relation with Gitelman's syndrome that may be related to a reduction of pyrophosphatase activity caused by hypomagnesemia [14].…”

Section: Gitelman's Syndromementioning

confidence: 97%

Understanding the mechanisms of angiotensin II signaling involved in hypertension and its long-term sequelae

Calò

Davis

Rossi

2014

Journal of Hypertension

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Angiotensin II (Ang II) plays a key role in hypertension, renal and cardiovascular pathophysiology via intracellular pathways that involve the activation of a multiplicity of signaling mechanisms. Although experimental and genetic animal models have been developed and used to explore Ang II signaling's role in hypertension, a complete understanding of the processes mediating Ang II signaling in hypertension in humans remains elusive. One impediment is that these animal models do not exhibit all the traits of human hypertension, making it impossible to extrapolate from them to humans. To overcome this issue, we have used patients with Bartter's and Gitelman's syndromes, a human model of endogenously blunted and blocked Ang II signaling that presents a constellation of clinical findings which manifest themselves as the opposite of hypertension. This article reviews the aspects of the pathophysiology of human hypertension and its short and long term sequelae, and uses the results of our studies in Bartter's and Gitelman's syndromes along with those of others to gain better insight and understanding of the role of Ang II signaling in these processes.

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Section: Gitelman's Syndromementioning

confidence: 97%

Understanding the mechanisms of angiotensin II signaling involved in hypertension and its long-term sequelae

Calò

Davis

Rossi

2014

Journal of Hypertension

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“…213,214 CPPD arthropathy or pseudogout can be the onset of presentation of Gitelman’s syndrome, and this disease should be considered in the differential of younger patients presenting with CPPD deposition disease. 215 …”

Section: Comorbidities Associated To Calcium Pyrophosphate Dihydrate mentioning

confidence: 99%

Comorbidities in Patients with Crystal Diseases and Hyperuricemia

Sattui¹,

Singh²,

Gaffo³

2014

Rheumatic Disease Clinics of North America

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Summary Crystal arthropathies are among the most common causes of painful inflammatory arthritis. Gout, the most common example, has been associated with cardiovascular and renal disease. In the last years, evidence on these associations and those involving other comorbidities, such as the metabolic syndrome, have emerged and established the importance of asymptomatic hyperuricemia. This review article presents an update on evidence, both experimental and clinical, describing associations between hyperuricemia, gout, and several comorbidities. Causality on calcium pyrophosphate arthropathy and associated comorbidities is also briefly reviewed.

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“…Conventional radiograph revealed calcification in symphysis pubis although no abnormal findings existed in knee or shoulder joint. It might be caused by calcium pyrophosphate deposition suggesting chondrocalcinosis, which was seen in the patients showing hypomagnesemia and hypocalciuria, who were diagnosed as Gitelman syndrome or Bartter syndrome ( Gupta et al, 2005 , Favero et al, 2011 ). However, there was no pathological gene mutation and deletion in the coding region or 5′ promoter region of SLC12A3 in her genome.…”

Section: Discussionmentioning

confidence: 99%

“…Hypocalciuria and hypomagnesemia are often recognized. A differential diagnosis between Gitelman syndrome and Bartter syndrome type III can be difficult using the results of the examinations of blood chemistry and laboratory tests even though the patients have secondary complication, chondrocalcinosis ( Favero et al, 2011 ). Therefore, genetic analysis is necessary to elucidate the precise etiology of the disease as they may show Gitelman-like symptoms.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration

et al. 2014

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The clinical phenotypes of patients with Bartter syndrome type III sometimes closely resemble those of Gitelman syndrome. We report a patient with mild, adult-onset symptoms, such as muscular weakness and fatigue, who showed hypokalemic metabolic alkalosis, elevated renin–aldosterone levels with normal blood pressure, hypocalciuria and hypomagnesemia. She was also suffering from chondrocalcinosis. A diuretic test with furosemide and thiazide showed a good response to furosemide, but little response to thiazide. Although the clinical findings and diuretic tests predicted that the patient had Gitelman syndrome, genetic analysis found no mutation in SLC12A3. However, a novel missense mutation, p.L647F in CLCNKB, which is located in the CBS domain at the C-terminus of ClC-Kb, was discovered. Therefore, gene analyses of CLCNKB and SLC12A3 might be necessary to elucidate the precise etiology of the salt-losing tubulopathies regardless of the results of diuretic tests.

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Bartter’s and Gitelman’s diseases

Cited by 23 publications

References 45 publications

Understanding the mechanisms of angiotensin II signaling involved in hypertension and its long-term sequelae

Understanding the mechanisms of angiotensin II signaling involved in hypertension and its long-term sequelae

Comorbidities in Patients with Crystal Diseases and Hyperuricemia

A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration

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