Renal tubular transport disorders inborn

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Inborn Renal Tubular Transport Disorders

Inborn Renal Tubular Transport Disorders are a group of genetic disorders affecting the kidney's ability to reabsorb essential substances and excrete waste products. These disorders are characterized by the kidney's tubules' inability to properly reabsorb electrolytes, glucose, amino acids, and water, leading to various clinical manifestations depending on the specific disorder.

Types

There are several types of inborn renal tubular transport disorders, each affecting different parts of the renal tubules:

• Bartter syndrome - Affects the thick ascending limb of the loop of Henle.
• Gitelman syndrome - Affects the distal convoluted tubule.
• Liddle's syndrome - Characterized by increased sodium reabsorption in the distal nephron.
• Renal tubular acidosis - Involves the failure of the kidneys to acidify urine.
• Fanconi syndrome - A generalized disorder affecting the proximal tubule's reabsorption.

Symptoms

Symptoms vary widely among the different disorders but may include:

• Electrolyte imbalances
• Polyuria
• Dehydration
• Growth retardation
• Metabolic alkalosis or acidosis

Causes

These disorders are typically caused by mutations in genes responsible for the encoding of proteins that regulate renal tubular transport. These mutations can lead to dysfunctional proteins or the absence of these proteins, disrupting the normal reabsorption and secretion processes in the kidney tubules.

Diagnosis

Diagnosis of inborn renal tubular transport disorders involves:

• Clinical evaluation
• Laboratory tests (electrolyte levels, acid-base status, urine analysis)
• Genetic testing to identify specific mutations

Treatment

Treatment varies depending on the specific disorder but may include:

• Electrolyte supplements
• Acid-base correction
• Medications to manage symptoms (e.g., diuretics, anti-hypertensives)
• In severe cases, kidney transplantation

Prognosis

The prognosis for individuals with inborn renal tubular transport disorders varies. Early diagnosis and appropriate management can improve quality of life and reduce the risk of complications.

See also

• Kidney
• Genetic disorder
• Electrolyte imbalance
• Metabolic disorder

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