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DOI 10.7759/cureus.55200

Медицинская библиотека · Cureus · 2024

The Diagnosis of Albright's Osteodystrophy in a Case With Respiratory Failure.

Rufino Rodrigo, Rodrigues Daniela, Carvalho Inês, Ferreira Patrícia, Carinhas Marta

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Аннотация

Albright's hereditary osteodystrophy is a rare hereditary disease due to a mutation of the complex guanine nucleotide-binding protein, alpha-stimulating activity polypeptide. This condition is commonly associated with type 1A and 1C pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism due to resistance of parathyroid hormone. Patients present with specific characteristics such as brachydactyly, short stature, round facies, subcutaneous ossifications, developmental delay, and obesity, associated with hypocalcemia and hyperphosphatemia. This case presents a 55-year-old woman with short stature and neurocognitive impairment, who was admitted to the emergency department with acute decompensated heart and respiratory failure. On admission, hypocalcemia and hyperphosphatemia were noted, which in combination with the patient's clinical history led to an etiological investigation. This case stresses the importance of not only treating the acute disease but also looking at the patient and their clinical and analytical features to diagnose this disease and prevent its complications.

Для цитирования: Rufino Rodrigo, Rodrigues Daniela, Carvalho Inês, Ferreira Patrícia, Carinhas Marta. The Diagnosis of Albright's Osteodystrophy in a Case With Respiratory Failure.. Cureus. 2024. DOI: 10.7759/cureus.55200.
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