Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy
M. A. Melikyan,
T. E. Ivannikova,
N. V. Milovanova,
A. A. Kolodkina,
O. B. Bezlepkina,
N. G. Mokryshevа https://doi.org/10.14341/probl13121
Abstract
Donohue syndrome (DS), also called Leprechaunism, is the most severe form of insulin resistance associated with biallelic mutations in INSR gene (OMIM: 147670). The approximate incidence of this syndrome is 1 per 1000000 births. Patients are present with typical clinical features such as intrauterine growth retardation, facial dysmorphism, severe metabolic disturbances, hepatomegaly and hypertrophic cardiomyopathy. Most DS patients die within the first two years of life due to respiratory infections, severe hypoglycemia or progressive cardiomyopathy. Treatment options are limited and no specific therapy exist for DS. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance including DS.
We report the case of a male patient with genetically confirmed Donohue syndrome, successfully treated with continuous subcutaneous IGF1 infusion via insulin pump. We observed improvement of glycemic control, liver function and cardiac hypertrophy regression following 15-month IGF1 therapy.
About the Authors
M. A. Melikyan
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Maria A. Melikyan - PhD.
Moscow.
SPIN-код: 4184-4383
Competing Interests:
None
T. E. Ivannikova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Tatyana E. Ivannikova.
11 Dm. Ulyanova street, 117036 Moscow.
SPIN-код: 8933-5723
Competing Interests:
None
N. V. Milovanova
Research Centre for medical genetics
Russian Federation
Competing Interests:
Russian Federation
Natalia V. Milovanova.
Moscow.
SPIN-код: 4273-7210
Competing Interests:
None
A. A. Kolodkina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna A. Kolodkina - MD, PhD.
Moscow.
SPIN-код: 6705-6630
Competing Interests:
None
O. B. Bezlepkina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Olga B. Bezlepkina - MD, PhD.
Moscow.
SPIN-код: 3884-0945
Competing Interests:
None
N. G. Mokryshevа
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Natalia G. Mokrysheva - MD, PhD, Professor.
Moscow.
SPIN-код: 5624-3875
Competing Interests:
None
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Supplementary files
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1. Figure 1. Patient N., 2 months old. | |
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2. Figure 2. Data from continuous monitoring of glycemia against the background of a fractional feeding regimen: 60-70 g every 2.5-3 hours, 40 g every 1.5 hours. | |
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3. Figure 3. Continuous monitoring of glycemia against the background of continuous feeding through a nasogastric tube + fractional feeding orally: 30-40 g every 2 hours; through a nasogastric tube at a rate of 20 ml / h. | |
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4. Figure 4. Flash monitoring during therapy with mecasermin + continuous feeding through a nasogastric tube. | |
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5. Figure 5. SDS plot of patient N's body weight. | |
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6. Figure 6. SDS plot of patient H growth | |
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7. Figure 7. Patient N., 18 months old | |
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For citations:
Melikyan M.A., Ivannikova T.E., Milovanova N.V., Kolodkina A.A., Bezlepkina O.B., Mokryshevа N.G. Donohue syndrome and use of continuous subcutaneous IGF1 pump therapy. Problems of Endocrinology. 2022;68(5):79-86. (In Russ.) https://doi.org/10.14341/probl13121
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