Protruding ears

Introduction Patients with Barth's syndrome have a special face, large head, prominent forehead, face with triangular auricles, large eyes, and drooping mouth. The clinical manifestations of this disease are complex and diverse, with hypokalemia symptoms. During the fetal period, Bartter syndrome is characterized by intermittent episodes of polyuria. During the 22-24 weeks of pregnancy, there is too much amniotic fluid. It is necessary to repeatedly take amniotic fluid to prevent premature birth.

Cause

The cause of this disease is still inconclusive. Most scholars believe that it is an autosomal recessive hereditary disease. There have been reports of 5 out of 9 compatriots and 4 cases of 2 consecutive generations. Modern molecular biology techniques have also revealed that Bartter syndrome is caused by mutations in the ion transporter gene on renal tubular epithelial cells. It has been found that there is a Na-K-2Cl-gene mutation in infant Batter syndrome. The gene is located at 15q12-21 and has 16 exons encoding 1099 amino acids, which is Na-K-2Cl-channel. More than 20 have been found. Mutations.

The classical Bartter syndrome is caused by a mutation in the CICNKB gene, which is located at 1q38, encoding a basal side of the 687 amino acid Cl-channel, and has now found about 20 mutation types. Adult Bartter syndrome, also known as Batter-Gietlman syndrome, is caused by a mutation in the thiazide-sensitive Na-K channel gene (SCI12A3), which is located at 16q913, encoding 1021 amino acids, and has found up to 40 mutations. In addition, potassium channel gene (ROWK) mutations have been found in some patients. Therefore, Batter syndrome can be identified as a clinical syndrome caused by mutations in several ion channel genes described above.

an examination

Related inspection

Otolaryngology CT examination ear examination

The clinical manifestations of this disease are complex and diverse, with hypokalemia symptoms. During the fetal period, Bartter syndrome is characterized by intermittent episodes of polyuria. During the 22-24 weeks of pregnancy, there is too much amniotic fluid. It is necessary to repeatedly take amniotic fluid to prevent premature birth.

The most common symptoms in children are growth retardation (51%) followed by muscle weakness (41%), as well as wasting (3l%) polyuria (28%), convulsions (26%) polydipsia (26%).

The most common symptoms of adult type are muscle weakness (40%), followed by fatigue (21%), convulsions (26%), less common symptoms such as convulsions, paresthesia, enuresis, nocturnal polyuria, constipation, nausea, vomiting, and even bowel Obstruction, halophilic, vinegar or sour pickles, erect hypotension, short stature, mental retardation, gout, hypercalciuria, renal calcification, progressive renal failure, magnesium deficiency, erythrocytosis.

It is worth noting that some patients (10% of children, 37% of adults) are asymptomatic and are diagnosed for other reasons. It has been reported that 2 patients with this disease have a special face, large head, prominent forehead, face with triangular auricles, large eyes, and drooping mouth.

Differential diagnosis

1. Primary aldosteronism

Hypokalemia and hyperaldosteronism may occur, but hypertension and hyporeninemia may be sensitive to angiotensin response.

2. Pseudoaldosteronism (IAddle syndrome)

Also known as hypokalemia metabolic alkalosis, but hypertension, hyporenalemia and hypoaldosteronism.

3. False Bartter syndrome

Due to the abuse of diuretic laxatives or long-term diarrhea, potassium and chloride are lost, hypokalemia, hyperreninemia and hyperaldosteronism occur, but the above drugs are discontinued and the symptoms are improved.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.