Pseudohypoaldosteronism
Introduction
Introduction to pseudoaldosteronism Pseudohypoaldosteronism, also known as Cheek-Perry syndrome, was first reported by Cheek and Perry (1958) and is a rare salt-loss syndrome. It is currently believed that the cause of this disease is the lack of aldosterone receptors on the target organs (tubules, salivary glands, sweat glands, and colons) of the patient, or the reduced or no binding of aldosterone to its receptor. basic knowledge The proportion of illness: 0.005% Susceptible population: more in the neonatal period Mode of infection: non-infectious Complications: electrolyte imbalance
Cause
Cause of pseudoaldosteronism
(1) Causes of the disease
The disease is a hereditary disease, and its genetic pattern can be expressed as autosomal dominant inheritance or autosomal recessive inheritance.
(two) pathogenesis
Pseudoaldosteronism can be divided into type I and type II, in which type I is autosomal recessive, and gene mutations cause loss of sodium channel protein subunit function in collecting duct epithelial cells, sodium reabsorption dysfunction, and tubular cell pairs. The endogenous aldosterone reactivity is reduced, the glomeruli and other renal tubules function normally, and the dominant color inherited is the salt corticosteroid receptor dysfunction type II, the pathogenesis is unknown, and the pathogenesis of type I is as follows.
Prevention
Pseudo aldosterone reduction prevention
The cause of this disease is hereditary disease, there is no effective measure for the occurrence of this disease, but for those who have already had symptoms, they should actively treat the disease to prevent the development of the disease and complications.
Complication
Pseudo aldosterone reduction complications Complications electrolyte disorder
Growth and development backward; electrolyte disorder acidosis; secondary to various infectious diseases.
Symptom
Pseudo aldosterone reduction symptoms common symptoms polyuria diarrhea hyperkalemia dehydration
The age of onset is mostly in the neonatal period. Symptoms of repeated vomiting, diarrhea, thirst or loss of diarrhea, growth and development are the main symptoms (even idiots), and some cases are limited to salt or aldosterone antagonists. It shows symptoms and relieves itself with age. Blood biochemical changes are low sodium, low chlorine and hyperkalemia. Some patients may have acidosis. There are also high renin and high plasma aldosterone activity in urine. Aldosterone excretion increased, but urinary 17-ketone and 17-hydroxysteroids and ACTH test were normal; the use of exogenous acetic acid deoxycorticosterone or 9-fluorohydrocortisone did not respond, children with polyuridine caused by polyuria, low Osmotic or isotonic dehydration, severe electrolyte disorder, if not treated in time, more often due to dehydration or secondary infection.
Examine
Examination of pseudoaldosteronism
Blood biochemical changes to low sodium, low chlorine and hyperkalemia, some patients may have acidosis; there are also high renin and high plasma aldosterone activity, urinary aldosterone excretion increased, but urinary 17 ketone and 17 The hydroxysteroids and the ACTH test were normal.
Regular X-ray and B-ultrasound inspection.
Diagnosis
Diagnosis and diagnosis of pseudo aldosterone reduction
Diagnostic criteria
According to the clinical characteristics, the general diagnosis is not difficult. The main points of diagnosis are:
1. The age of onset is early, mostly in the neonatal period.
2. There are typical clinical manifestations, repeated vomiting, diarrhea, decreased or disappeared thirst, polyuria, hypotonic or isotonic dehydration, severe electrolyte imbalance, some patients may have acidosis; children's growth and development mental retardation.
3. Use of exogenous deoxycorticosterone acetate or 9-fluorohydrocortisone without reaction.
4. The laboratory test can meet the condition of the disease to diagnose the disease.
Differential diagnosis
The disease should be differentiated from the following diseases:
1. Loss of salt syndrome This disease should be differentiated from 21-hydroxylase deficiency and 18-hydroxylase deficiency caused by salt-loss syndrome. In addition to salt-loss syndrome, the salt-loss syndrome also has external genitalia. Dysplasia is female masculinity or male pseudoprecocious puberty, plasma renin activity and aldosterone concentration are often lower than normal; blood ACTH is significantly elevated and plasma cortisol is significantly reduced, clinically effective with cortisol treatment, this disease in addition to clinical manifestations In addition to salt loss, plasma renin activity is elevated and blood aldosterone concentration is decreased, and treatment with exogenous aldosterone is ineffective.
2. Renal salt-salt nephritis This disease should also be distinguished from renal-induced salt-salt nephritis. Renal salt-salt nephritis has many causes of primary disease, mostly for adults, and patients can also show low blood. Sodium, dehydrated, but not a genetic disease, can be identified.
3. Renal tubular acidosis Renal tubular acidosis in addition to hyponatremia, there are still low blood calcium, high blood chlorine, hypokalemia, etc., it is very different from this disease.
