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    Home > Active Ingredient News > Endocrine System > To provide guidance for the diagnosis and treatment of rare diseases, the "Chinese Expert Consensus on the Diagnosis and Treatment of Gitelman Syndrome (2021 Edition)" is released!

    To provide guidance for the diagnosis and treatment of rare diseases, the "Chinese Expert Consensus on the Diagnosis and Treatment of Gitelman Syndrome (2021 Edition)" is released!

    • Last Update: 2022-01-10
    • Source: Internet
    • Author: User
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    The new clinical phenotypes, disease types, modified functional tests, biomarkers and management experience of special populations of Gitelman syndrome in Chinese population have been reported in domestic and foreign journals
    .

    Based on the latest evidence-based medical evidence, experts in multidisciplinary fields have reached a consensus on the clinical phenotype, diagnosis, treatment, chronic complications and management of Gitelman syndrome, forming the "Chinese Expert Consensus on the Diagnosis and Treatment of Gitelman Syndrome (2021 Edition)"
    .

    It provides an important basis for standardized clinical diagnosis and treatment
    .

    Clinical diagnosis 1.
    For adolescents or adults with hypokalemia, hypomagnesemia or hypocalciuria with metabolic alkalosis, normal blood pressure, Gitelman syndrome (3B) should be checked; 2.
    Hydrochlorothiazide test is An important clinical function test to assist in the diagnosis of Gitelman syndrome, which helps to identify the location of renal tubular damage and reflects the functional status of the renal sodium and chloride cotransporter (NCC) (3B); 3.
    It is recommended to perform clinically diagnosed patients with Gitelman syndrome Genetic testing confirmed that there may be ethnic differences in high-frequency mutations in Gitelman syndrome (3B); 4.
    The most commonly used genetic testing method is direct sequencing of the SLC12A3 gene, second-generation sequencing technology, multiple ligation probe amplification technology (MLPA) are also gradually It is used for the diagnosis of Gitelman syndrome (3B); 5.
    According to the ACMG gene variant pathogenicity interpretation guidelines, the variants are classified, and if necessary, in vivo or in vitro functional tests can be carried out to provide evidence for determining the pathogenicity (3B)

    .

     The specific diagnosis and treatment flow chart of Gitelman syndrome is shown in Figure 1
    .

    Figure 1 Flow chart of diagnosis and treatment of Gitelman syndrome.
    Note: RTA, renal tubular acidosis; RAS, renin-angiotensin system; COX, cyclooxygenase; ACEI/ARB, angiotensin converting enzyme inhibitor/angiotensin Receptor antagonist

    .

    Clinical classification and classification 1.
    Gitelman syndrome has various clinical manifestations, and the severity of clinical symptoms is related to the degree of hypokalemia and hypomagnesemia, but there are differences between individuals (3B); 2.
    Some patients with Gitelman syndrome have normal and normal blood magnesium Patients with low blood magnesium and blood magnesium have mild clinical manifestations, and blood magnesium can be used as one of the basis for clinical classification (3B); 3.
    The level of urinary prostaglandin E2 (PGE2) metabolites in patients with Gitelman syndrome can be elevated, and it can be compared with The severity of clinical manifestations is related and can be used as one of the basis for clinical classification to guide treatment (3B)

    .

    The severity levels of hypokalemia and hypomagnesemia in patients with Gitelman syndrome can be seen in Table 2, and the clinical manifestations can be seen in Table 3
    .

    Table 2 Gitelman syndrome potassium and magnesium classification recommendations Table 3 Gitelman syndrome clinical manifestations classification recommended treatment strategies 1.
    Patients with Gitelman syndrome can supplement potassium and magnesium through diet and drugs

    .

    Potassium chloride is recommended for potassium supplementation, and organic acid salt is recommended for magnesium supplementation; patients with severe hypokalemia or hypomagnesemia can be supplemented intravenously (3B); 2.
    When patients with Gitelman syndrome have intractable electrolyte disturbances and related For clinical symptoms, or relying on high-dose and/or intravenous potassium and magnesium supplementation, or when potassium supplementation and magnesium supplementation are intolerant, it is recommended to use potassium-sparing diuretics (such as spironolactone, eplerenone and amiloride), COX Inhibitors (such as indomethacin) (level of evidence: 1b; strength of recommendation: A), angiotensin converting enzyme inhibitor (ACEI)/angiotensin receptor antagonist (ARB) drugs can also be used in combination, but Need to monitor blood pressure (3B)

    .

    Chronic complications and complications management 1.
    Abnormal glucose metabolism ① Patients with Gitelman syndrome may have abnormal glucose metabolism, including impaired fasting blood glucose, impaired glucose tolerance and type 2 diabetes.
    Glucose tolerance and blood glucose levels should be monitored regularly (3B); ②Replenishment Potassium supplementation with magnesium and spironolactone therapy can improve the abnormal glucose metabolism in patients with Gitelman syndrome (3B)

    .

    2.
    Bone and joint changes ① Children with Gitelman syndrome may have short stature.
    Potassium supplementation and magnesium supplementation can improve the height growth rate of some patients; if the height growth of patients after conventional treatment is not ideal, growth hormone stimulation test is feasible.
    Patients with growth hormone deficiency can be treated with growth hormone therapy (3B); ② Magnesium supplementation can prevent or reduce calcium pyrophosphate deposition; in the acute stage of paroxysmal joint swelling and pain, non-steroidal anti-inflammatory drugs or low-dose colchicine can be used for symptomatic treatment (3B)

    .

    Special circumstances management 1.
    Pregnancy ①Pregnancy can aggravate hypokalemia and hypomagnesemia, especially in early pregnancy, blood electrolyte levels should be strictly monitored, and potassium and magnesium supplements should be increased; blood potassium and blood magnesium levels can be improved after delivery ( 3B); ②Cesarean section or vaginal delivery can be used according to the patient's condition, and the perinatal period should be multidisciplinary cooperation and close monitoring (3B)

    .

    2.
    Perioperative management ①Due to the electrolyte and acid-base balance disorders in patients with Gitelman syndrome, as well as the risk of prolonged QT interval and even malignant arrhythmia, the perioperative period should be fully assessed, multidisciplinary cooperation should be emphasized, and individualized management plans should be developed ( 3B)

    .

    The above content is extracted from: 1.
    Rare Diseases Branch of Chinese Research Hospital Association, China Rare Diseases Alliance, Beijing Association of Rare Diseases Diagnosis and Protection, etc.
    Chinese Expert Consensus on Gitelman Syndrome Diagnosis and Treatment (2021 Edition).
    Union Medical Journal [J].
    11- 30.
    902-912.
    Download the guide: https://guide.
    medlive.
    cn/guideline/24618
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