Cytochrome C oxidase deficiency

Introduction Cytochrome C oxidase deficiency is a form of Fanconi syndrome, a hereditary or acquired disease, often associated with cystine disease, characterized by proximal kidney Abnormal function of tubules, causing glucoseuria, phosphate urine, amino aciduria and bicarbonate urine. There are many causes of this syndrome, which can be divided into primary and secondary. The primary Fanconi syndrome is further divided into three types: infant type, adult type, and brush border missing type. Secondary Fanconi syndrome also includes secondary to hereditary diseases and secondary acquired diseases.

Cause

The lack of this enzyme in the mitochondria of renal tubular epithelial cells impedes ATP synthesis and oxidative phosphorylation in the electron transport chain. Most patients develop from 11 to 13 weeks after birth, mainly characterized by mitochondrial myopathy, lactic acidosis and renal glucosuria, amino aciduria, phosphate urinary and other renal tubular dysfunction.

an examination

Related inspection

Serum osteocalcin (BGP)

diagnosis:

The disease is rare, more than adult symptoms, renal glucosuria, multiple amino aciduria, hypercalciuria, renal loss of sodium, hypophosphatemia, proximal renal tubular acidosis, hypouricemia, renal tubules Sexual proteinuria, hypokalemia (muscle weakness, soft palate, periodic paralysis, etc.), hypocalcemia (hand, foot and ankle).

an examination:

1. Urine examination: urine is alkaline, low specific gravity, urine protein, urine sugar positive, urinary calcium, potassium, phosphorus, uric acid increased, showing renal all-amino acid urine.

2. Blood test: blood calcium, phosphorus, potassium, uric acid, carbon dioxide binding force decreased, blood chlorine increased, blood alkaline phosphatase increased.

3. Conventional X-ray examination: osteoporosis, skeletal deformities, urinary calculi can be found.

4. Other examinations: Fanconi syndrome caused by cystine storage disease, cystine crystals were examined in the cornea by crystallization analysis in bone marrow slices, white blood cells, rectal mucosa or slit lamp.

Differential diagnosis

1. Infant Fanconi syndrome differential diagnosis should pay attention to other causes of renal tubular acidosis, muscle weakness or gait instability similar to neurological disease or primary myopathy. Infants who are also very similar to Fanconi syndrome should be distinguished.

2. Adults with other metabolic bone diseases caused by osteoporosis with myopathy are similar to Fanconi syndrome; uremia patients may have glucose urine or amino acid urine without hypophosphatemia; Wilson disease will also be confused with sports diseases . In short, complex renal tubules must be found in their primary disease by excreting too much solute.

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