Histidinuria renal tubular defect syndrome

Histidinuria renal tubular defect syndrome is a rare metabolic disorder characterized by an abnormality in the renal tubules, the part of the kidney responsible for filtering and reabsorbing solutes from the urine. This condition is also known as Lysinuric Protein Intolerance (LPI) and is part of a group of disorders known as the aminoacidurias.

Symptoms and Signs

The symptoms of Histidinuria renal tubular defect syndrome can vary greatly among affected individuals. Common symptoms include failure to thrive, muscle weakness, and developmental delay. Some individuals may also experience episodes of hyperammonemia, a condition characterized by elevated levels of ammonia in the blood, which can lead to serious neurological complications.

Causes

Histidinuria renal tubular defect syndrome is caused by mutations in the SLC7A7 or SLC7A9 genes. These genes provide instructions for making proteins that are part of a family of proteins known as amino acid transporters, which are involved in the transport of amino acids across cell membranes.

Diagnosis

Diagnosis of Histidinuria renal tubular defect syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include urinalysis to detect elevated levels of certain amino acids in the urine, and genetic testing to identify mutations in the SLC7A7 or SLC7A9 genes.

Treatment

Treatment of Histidinuria renal tubular defect syndrome is aimed at managing the symptoms and preventing complications. This may include dietary modifications to limit the intake of certain amino acids, medications to manage symptoms such as hyperammonemia, and in some cases, kidney transplantation.

Prognosis

The prognosis of Histidinuria renal tubular defect syndrome varies among affected individuals. With early diagnosis and appropriate management, many individuals with this condition can lead a normal life. However, some individuals may experience serious complications such as kidney failure, which can be life-threatening.

See Also

• Aminoaciduria
• Kidney disease
• Metabolic disorder
• Genetic disorder

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