Синдром гіперурикемії-легеневої гіпертензії-ниркової недостатності-алкалозу
ORPHA:363694· ICD-10 E88.8· Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Визначення(English summary)
A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal