Vitamin D deficiency in a patient with HDR syndrome

Area of Science:

• Endocrinology
• Genetics
• Nephrology

Background:

• Barakat syndrome, also known as HDR syndrome, is a rare genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia.
• Vitamin D deficiency can exacerbate hypocalcaemia and complicate the management of endocrine disorders.

Observation:

• A 51-year-old male presented with symptoms of severe hypocalcaemia, including hypertonia and loss of consciousness.
• Initial assessment revealed severe hypoparathyroidism, hypocalcaemia, hyperphosphataemia, low magnesium, and mild renal insufficiency.
• Further evaluation identified left renal aplasia and bilateral sensorineural deafness, consistent with HDR syndrome.

Findings:

• The patient was diagnosed with Barakat syndrome (hypoparathyroidism, deafness, renal dysplasia) and concurrent vitamin D deficiency.
• Intravenous calcium gluconate and magnesium administration led to improved consciousness and laboratory markers.
• Oral calcium and vitamin D supplementation effectively corrected the hypocalcaemia.

Implications:

• This case highlights the importance of considering concurrent vitamin D deficiency in patients with Barakat syndrome.
• Early diagnosis and comprehensive management are crucial for improving patient outcomes in rare genetic syndromes.
• Further research into the interplay between genetic factors and nutritional deficiencies in HDR syndrome is warranted.