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Clinical characteristics of Bartter syndrome (BS) and Gitelman syndrome (GS)[1-5]

Clinical characteristics of Bartter syndrome (BS) and Gitelman syndrome (GS)[1-5]
  BS 1 BS 2 BS 3 BS 4a BS 4b Type 5* GS
Affected gene SLC12A1 KCNJ1 CLCNKB BSND CLCNKA;
CLCNKB		 MAGED2 SLC12A3
Typical age of presentation Antenatal Antenatal 0 to 5 years Antenatal Antenatal Antenatal >6 years
Polyhydramnios Severe Severe Absent to mild Severe Severe Very severe Absent
Prematurity Common Common Rare Common Common Always No
Neonatal hypovolemia Common Common Rare Common Common Common Absent
Hypokalemia Always Transient neonatal hyperkalemia followed by hypokalemia Always Always Always Always Always
Calcium excretion High High Variable but usually normal Variable Variable Variable Low
Nephrocalcinosis Very common Very common Rare and, if present, mild Rare and, if present, mild Rare and, if present, mild Rare Absent
Magnesium excretion Normal Normal Normal to high Normal to high Normal to high Unknown High
Poor weight gain and growth failure Common Common Common Common Common No

Can be seen in prepubertal individuals.

Short stature may be seen in affected adolescents and adults.
Other findings       Sensorineural hearing loss Sensorineural hearing loss Large for gestational age; transient disease Chondrocalcinosis
Bartter and Gitelman syndromes are inherited hypokalemic salt-losing tubulopathies, characterized by hypochloremic metabolic alkalosis. Clinical characteristics are noted based on the affected gene. However, variants in the same gene can produce phenotypic diversity. Refer to UpToDate topics on BS/GS for additional content.
* BS type 5 is characterized by severe polyhydramnios with complete resolution of disease within several months to two years after birth.
¶ Neonatal hypovolemia presents by the first few days of life due to massive polyuria (often exceeding 10 mL/kg/hr).
References:
  1. Cunha TDS, Heilberg IP. Bartter syndrome: causes, diagnosis, and treatment. Int J Nephrol Renovasc Dis 2018; 11:291.
  2. Kömhoff M, Laghmani K. Curr Opin Nephrol Hypertens 2017; 26:419.
  3. Legrand A, Treard C, Roncelin I, et al. Clin J Am Soc Neprhol 2018; 13:242.
  4. Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 2017; 91:24.
  5. Konrad M, Nijenhuis T, Ariceta G, et al. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney Int 2021; 99:324.
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