Lipidosis
Introduction
Introduction Lipidosis is a group of hereditary diseases in which fatty acid, cholesterol or lipid complexes are deposited in organs such as the liver and spleen due to congenital defects in lipid metabolism enzymes. Including Gaucher disease, Niemann-Pick disease, acid esterase deficiency, cholesterol ester deposition disease, familial hyperlipoproteinemia, apolipoproteinemia and the like. The disease is caused by congenital defects in lipid metabolism disorder, and the deposition of lipids in the tissues, mainly glycolipids, phospholipids and cholesterol. The mechanism of its occurrence is mostly due to the action of lipid catabolism. The hereditary deletion of the enzymes on the substrate prevents the corresponding substrate (lipid) catabolism from proceeding and depositing in the tissue.
Cause
Cause
The disease is caused by congenital defective lipid metabolism disorder, and the deposition of lipidoids, phospholipids and cholesterol, mainly due to the action of lipid catabolism. The hereditary deletion of the enzymes causes their corresponding substrate (lipid) catabolism to proceed and deposit in the tissue.
Examine
an examination
Related inspection
Urine 17-hydroxy-corticosteroid (17-OH-CS) CT scan of vision
1. History: pay attention to age of onset, family history of genetic disease, insidious onset, slow onset of onset, with or without developmental delay, abnormal mental state after illness, mental retardation, indifferent expression, stupid or limb paralysis, visual impairment , hearing impairment, convulsions or brain offense, urinary bladder out of control.
2. General physical examination: pay attention to whether there is liver, spleen and lymph nodes, skin ichthyosis, yellow tumor or papule-like skin lesions, with or without cataract.
an examination:
1. Neurological examination: visual acuity, visual field and fundus should be examined, there should be cherry red spots in the macula, limited eye movement, mental retardation or mental retardation, hearing loss in both ears, reduced speech or speech, mental retardation, idiot or dementia , mutual aid and dysarthria, limb paralysis, increased muscle tone or muscle rigidity, double Babinski sign (+), peripheral type sensory disturbance.
2. Auxiliary examination: peripheral blood routine, platelets, bones, skull, spine X-ray, urine 17-hydroxy, 17-ketone corticosteroid test, plasma phytanic acid test, EEG, brain CT or MRI, bone marrow examination , cerebrospinal fluid examination, electrocardiogram examination. Consider a brain biopsy if necessary.
Diagnosis
Differential diagnosis
Differential diagnosis of lipidosis:
Clinically, most of the lipid deposits have hepatomegaly and splenomegaly, but their gastrointestinal symptoms and liver function damage are different. The hepatic lipidosis caused by them is a pathological process of systemic diseases in the liver. Excessive lipids are mainly deposited in mononuclear macrophages instead of hepatocytes, and the lipids deposited in the liver are not triglycerides. Ester based. Therefore, lipid deposition requires mutual identification from fatty liver.
