Gordon syndrome
Introduction
Introduction to Gordon Syndrome Gordonsyndrome is hyperkalemia, high blood chlorine, low renin hypertension, also known as familial hyperkalemia or type II pseudoaldosteronism. basic knowledge The proportion of illness: the incidence rate is about 0.005% - 0.007% Susceptible people: Occurred in high blood pressure patients aged 10 to 30 years old Mode of infection: non-infectious Complications: Hypertensive nephropathy
Cause
The cause of Gordon syndrome
Congenital factors (65%):
It is believed that the disease is caused by defects in congenital tubular function, increased renal sodium reabsorption, increased blood sodium and blood chlorine, resulting in blood volume expansion and high blood pressure.
Body factor (35%):
Renal secretion is inhibited, so plasma renin activity is reduced, because the potassium excretion of the kidney is reduced, so high blood potassium is produced, and acidosis is mainly caused by hyperkalemia.
Pathogenesis
Gordon et al believe that the possible mechanism of this disease is renal tubular sodium, increased reabsorption of chlorine, increased capacity to inhibit the secretion of renin and aldosterone, and a decrease in the reabsorption of filtered sodium in the distal convoluted tubules leading to excretion of potassium and hydrogen ions. Reduced, in the case of inhibition of the chronic renin-angiotensin system, aldosterone levels are still insufficient to maintain potassium balance, low salt diet and diuretic treatment to obtain good results, for cold stimulation, angiotensin II and fore Excessive pressor response of adrenaline supports the expansion of capacity. Schambelan et al believe that the disease may be the destruction of the chlorine reabsorption barrier of the distal convoluted tubule. The chlorine and sodium are reabsorbed together, and the potential necessary for excretion of potassium and hydrogen ions cannot be established. Poor, resulting in hyperkalemia, high blood chlorine and acidosis, Farfel et al proposed cell membrane function defects, that potassium into the cell dysfunction, Kelmm believes that low prostaglandin (PGE2) level is one of the pathophysiological mechanisms of Gordon syndrome The disease is a genetic heterogeneous disease. O'Shaughnessy et al believe that the disease is associated with chromosome 17 abnormalities, chromosome 1 (PHA2A), 17 (PHA2B) and 1 2 (PHA2C) three sites have been identified, but thiazide-sensitive NaCl (SLCl2A3) has been excluded from the disease.
Prevention
Gordon syndrome prevention
The disease is a rare autosomal dominant genetic disease. At present, there is no effective prevention method. In the diagnosis and treatment of hypertension, it is necessary to be alert to the existence of the disease. When suspicious signs are found, further examination is required. Early detection and early treatment, the disease has a good prognosis.
Complication
Gordon syndrome complications Complications Hypertensive nephropathy
The complications of Gordon syndrome are similar to those of hypertension. They can be complicated by stroke, left ventricular failure, hypertensive retinopathy, hypertensive nephropathy. Patients are often tolerant to chronic hyperkalemia and hyperkalemia. At the time, the disease may have muscle weakness or paralysis, and sometimes the electrocardiogram T wave is obvious.
Symptom
Gordon syndrome symptoms common symptoms hypertension hyperkalemia metabolic acidosis
The main manifestations of Gordon syndrome are hyperkalemia, high blood chlorine, acidosis, low renin, and high blood pressure.
According to Achard, 90 cases of Gordon syndrome were reported in the world at least in 2001. The severity of the disease was different. The clinical manifestations were different. A group of 69 cases were reported, of which 37 had hypertension, 15 had short stature, and 4 had Mental retardation, 37% of people under the age of 20 have high blood pressure, 82% of those over 20 years old have hypertension, and another group reported 51 cases of Gordon syndrome from 1964 to 1991, 17 patients from the United States and 8 from Australia. 7 cases in Israel, 4 cases in Finland, 6 cases in Japan, 3 cases in Scotland, 3 cases in Canada, 2 cases in France, 28 cases in men and 23 cases in women. The age of onset is 52 years old, mostly 10 to 30 years old, with family. 34/44 cases of history, 38 cases of hypertension, blood pressure range of 140-220/90-120mmHg, blood sodium level 134-144mmol/L; blood potassium 4.9-9.6mmol/L, mostly 5.6-8.0mmol/L Blood chlorine 102 ~ 119mmol / L; HCO3-14 ~ 31mmol / L (more than 16 ~ 20mmol / L); plasma and urine aldosterone is generally normal or slightly lower; serum creatinine is generally normal; atrial natriuretic peptide At normal levels, plasma renin activity (PRA) was measured in some cases, plasma renin activity levels were low, and a salt-restricted diet was administered. The chaos can be corrected, the incisors are abnormally visible, and the stroke is caused by high blood pressure. Shanghai reported a case of a 48-year-old male patient with blood pressure of 140-170/90-105 mmHg, blood potassium of 5.8-6.1 mmol/L, and blood chlorine. 112 ~ 117mmol / L, after the sodium-limited diet, the above abnormal improvement.
Examine
Gordon syndrome check
1. Hyperkalemia is the basic condition for finding the clue and diagnosis of this disease. It is advisable to check the blood potassium several times.
2. Hyperchloremia acidosis, in most cases, plasma carbonate concentration decreased, arterial blood pH also decreased.
3. Plasma renin activity is significantly reduced, plasma aldosterone levels are mostly normal, but aldosterone levels are compared with normal potassium, standard is high for hyperkalemia, atrial natriuretic peptide is normal or mild Raise.
4. The serum creatinine, urea nitrogen and endogenous creatinine clearance rate reflecting renal function are often in the normal range, and the urine concentration function is normal.
Treatment with a sodium-restricted diet or with a thiazide diuretic, blood pressure and blood electrolyte disorders are improved or corrected.
Diagnosis
Diagnosis and identification of Gordon syndrome
Chronic hyperkalemia, other symptoms are often not obvious should consider the possibility of this disease, hyperkalemia, hyperchloremia, low plasma renin activity, normal glomerular filtration rate, with or without high blood pressure, It should be considered as Gordon syndrome.
Identification:
Chronic hyperkalemia related diseases, while Gordon syndrome has a normal glomerular filtration rate, while other diseases may have a temporary or sustained decrease in glomerular filtration rate, isolated aldosterone hypoxia, Ai Dickens, pseudo-aldosterone deficiency, aldosterone deficiency or resistance, resulting in loss of renal sodium, decreased blood volume, increased plasma renin, and decreased glomerular filtration rate.
Blood pressure levels classify chronic hyperkalemia. According to glomerular filtration rate, plasma renin and aldosterone levels, it is not difficult to identify Gordon syndrome and other diseases.
