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Home > West Medicine > Internal Medicine > Gastroenterology
百科

Zellweger syndrome

消化内科

Common symptoms

无力、肝肾综合征、面部畸形、抽搐、蛋白尿

The pathology of disease

Zellweger syndrome (cerebrohepatorenal syndrome) is peroxisomal biogenesis disorder; severe hypotension/hepatomegaly/cranial facial anomalies; neonatal.

Common Symptoms

Hypotonia; hepatomegaly; seizures; facial dysmorphism; renal cysts

Causes

PEX gene mutation; autosomal recessive.

Treatment

Supportive

Prevention

Genetic counseling.

Recommended Department

It is recommended to visit the pediatrics department; before the visit you may first book an appointment and connect with experts through this platform.

Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.