Lightwood–Albright syndrome

Lightwood–Albright syndrome is a rare genetic disorder characterized by a combination of renal tubular acidosis (RTA) and osteomalacia. This condition is also known as renal tubular acidosis type 2 or proximal renal tubular acidosis.

Presentation

Individuals with Lightwood–Albright syndrome typically present with symptoms related to the kidneys and bones. The primary features include:

• Renal tubular acidosis: A condition where the kidneys fail to properly acidify the urine, leading to an accumulation of acid in the blood.
• Osteomalacia: Softening of the bones due to defective bone mineralization, often resulting in bone pain and fractures.

Pathophysiology

The underlying cause of Lightwood–Albright syndrome is a defect in the renal tubules, specifically in the proximal tubules. This defect impairs the reabsorption of bicarbonate, leading to a decrease in blood pH (acidosis). The acidosis, in turn, affects bone metabolism, resulting in osteomalacia.

Diagnosis

Diagnosis of Lightwood–Albright syndrome involves a combination of clinical evaluation, laboratory tests, and imaging studies. Key diagnostic criteria include:

• Blood tests showing metabolic acidosis with normal anion gap.
• Urine tests indicating impaired bicarbonate reabsorption.
• Bone density scans revealing osteomalacia.

Treatment

Management of Lightwood–Albright syndrome focuses on correcting the acidosis and addressing bone health. Treatment options include:

• Oral bicarbonate or citrate supplements to neutralize the acid in the blood.
• Vitamin D and calcium supplements to support bone health.
• Monitoring and managing any complications related to the kidneys and bones.

Prognosis

The prognosis for individuals with Lightwood–Albright syndrome varies depending on the severity of the condition and the effectiveness of treatment. With appropriate management, many patients can lead relatively normal lives, although they may require ongoing medical care.

Related Pages

• Renal tubular acidosis
• Osteomalacia
• Metabolic acidosis
• Proximal tubule
• Bone mineralization