Gitelman syndrome
ORPHA:358DiseaseAutosomal recessiveChildhood
Ассоциированные гены2
Фенотипы (HPO)68
Очень частый (80–99%)1
HP:0002900Hypokalemia
Частый (30–79%)6
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001657Prolonged QT interval
HP:0002027Abdominal pain
HP:0002632Low-to-normal blood pressure
HP:0002917Hypomagnesemia
Периодический (5–29%)13
HP:0001952Glucose intolerance
HP:0000017Nocturia
HP:0000093Proteinuria
HP:0000128Renal potassium wasting
HP:0000805Enuresis
HP:0000823Delayed puberty
HP:0000855Insulin resistance
HP:0002017Nausea and vomiting
HP:0002901Hypocalcemia
HP:0002918Hypermagnesemia
HP:0003394Muscle spasm
HP:0030083Salt craving
HP:0200114Metabolic alkalosis
Очень редкий (1–4%)48
HP:0000360Tinnitus
HP:0000622Blurred vision
HP:0000872Hashimoto thyroiditis
HP:0000934Chondrocalcinosis
HP:0000975Hyperhidrosis
HP:0001262Excessive daytime somnolence
HP:0001279Syncope
HP:0001663Ventricular fibrillation
HP:0001698Pericardial effusion
HP:0001891Iron deficiency anemia
HP:0001947Renal tubular acidosis
HP:0001953Diabetic ketoacidosis
HP:0001959Polydipsia
HP:0001962Palpitations
HP:0001970Tubulointerstitial nephritis
HP:0001994Renal Fanconi syndrome
HP:0001997Gout
HP:0002014Diarrhea
HP:0002019Constipation
HP:0002098Respiratory distress
HP:0000020Urinary incontinence
HP:0000097Focal segmental glomerulosclerosis
HP:0002315Headache
HP:0002321Vertigo
HP:0002514Cerebral calcification
HP:0002619Varicose veins
HP:0002829Arthralgia
HP:0002894Neoplasm of the pancreas
HP:0002897Parathyroid adenoma
HP:0003201Rhabdomyolysis
HP:0003326Myalgia
HP:0003401Paresthesia
HP:0003470Paralysis
HP:0005135Abnormal T-wave
HP:0005978Type II diabetes mellitus
HP:0006789Mitochondrial encephalopathy
HP:0007359Focal-onset seizure
HP:0009800Maternal diabetes
HP:0011736Primary hyperaldosteronism
HP:0012248Prolonged PR interval
HP:0012250ST segment depression
HP:0012364Decreased urinary potassium
HP:0025072Prominent U wave
HP:0030880Raynaud phenomenon
HP:0100324Scleroderma
HP:0100647Graves disease
HP:0100651Type I diabetes mellitus
HP:0100785Insomnia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)