Case report: hyponatraemia in Wolfram syndrome
Introduction: The Wolfram or DIDMOAD (diabetes Insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is characterised by arginine-vasopressin deficiency, diabetes mellitus, optic atrophy and deafness, with cognitive and psychiatric issues that can appear later in life. It is inherited...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-07-01
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| Series: | Clinical Medicine |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1470211825000909 |
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| Summary: | Introduction: The Wolfram or DIDMOAD (diabetes Insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is characterised by arginine-vasopressin deficiency, diabetes mellitus, optic atrophy and deafness, with cognitive and psychiatric issues that can appear later in life. It is inherited as an autosomal recessive trait with incomplete penetrance.1Wolfram syndrome is a rare disease estimated to affect ∼1/770,000 in the UK, with a heterozygous carrier state frequency of 1/354 and as high as 1/100 in Europe and the USA.2This case report aimed to highlight the challenges of managing hyponatraemia in Wolfram syndrome. Materials and Methods: A 29-year-old woman presented with seizure and decreased level of consciousness. She had background Wolfram syndrome (diagnosed at the age of 2 years), premature ovarian failure, gluten sensitivity and OCD. She was taking regular desmopressin 100 mcg twice daily, hormone replacement therapy (HRT) and insulin degludec, and was using a closed-loop insulin pump. She had a history of recent ear infection, decreased oral intake and intermittent headache and was given antibiotic drops by her GP. Initial blood results in the emergency department (ED) showed a sodium level of 120 mmol/L (137–144), and blood glucose of 6.8 mmol/L. Inflammatory markers were normal and no abnormalities were found on computed tomography (CT) head. She was managed as a case of symptomatic hyponatraemia in ED with hypertonic saline, and desmopressin was witheld. The patient also developed diabetic ketoacidosis while on admission. Over the course of her hospital stay, both diabetic ketoacidosis (DKA) and hyponatremia were managed concurrently with insulin, intravenous (IV) fluids and titration of desmopressin according to her sodium levels, with strict monitoring of fluid balance. Results and Discussion: Hyponatraemia is a common clinical problem in patients with Wolfram syndrome and requires careful management because most patients have concurrent diabetes mellitus and bladder dysfunction.3Arginine vasopressin deficiency, a component of Wolfram syndrome, leads to polyuria. This is managed with desmopressin, which is an analogue of ADH. When administered, patients will have unsustainable ADH activity, leading to an inability to excrete excess water normally. This would lead to fluctuations in sodium levels; hence, serum sodium levels need to be measured after 1–2 days and, when levels have stabilised, then measured once or twice yearly. Thus, dose titration of desmopressin is crucial and requires input from endocrinologists.3,4 Conclusion: Hyponatraemia can complicate the management of desmopressin-treated diabetes insipidus in Wolfram syndrome. Dose titration with expert input from endocrinologists, fluid management, as well as patient education, are all crucial in managing this common electrolyte imbalance. |
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| ISSN: | 1470-2118 |