Acute adrenal insufficiency
ORPHA:95409Clinical syndromeAutosomal recessive, Not applicable, X-linked dominantAll ages
Фенотипы (HPO)44
Облигатный (100%)2
HP:0008163Decreased circulating cortisol level
HP:0008207Primary adrenal insufficiency
Очень частый (80–99%)14
HP:0000953Hyperpigmentation of the skin
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001824Weight loss
HP:0002014Diarrhea
HP:0002017Nausea and vomiting
HP:0002019Constipation
HP:0002027Abdominal pain
HP:0002039Anorexia
HP:0002615Hypotension
HP:0002960Autoimmunity
HP:0003154Increased circulating ACTH level
HP:0011106Hypovolemia
HP:0012378Fatigue
Частый (30–79%)16
HP:0000083Renal insufficiency
HP:0000127Renal salt wasting
HP:0000848Increased circulating renin level
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001278Orthostatic hypotension
HP:0001897Normocytic anemia
HP:0001943Hypoglycemia
HP:0002149Hyperuricemia
HP:0002153Hyperkalemia
HP:0002902Hyponatremia
HP:0004319Decreased circulating aldosterone level
HP:0005976Hyperkalemic metabolic acidosis
HP:0008226Androgen insufficiency
HP:0011948Acute respiratory tract infection
HP:0012364Decreased urinary potassium
Периодический (5–29%)12
HP:0000823Delayed puberty
HP:0000835Adrenal hypoplasia
HP:0000958Dry skin
HP:0001045Vitiligo
HP:0001297Stroke
HP:0001658Myocardial infarction
HP:0002215Sparse axillary hair
HP:0002321Vertigo
HP:0002829Arthralgia
HP:0003072Hypercalcemia
HP:0030018Decreased female libido
HP:0030083Salt craving
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)