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Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up

Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up
Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up
We present a Norwegian family, followed since 1967, with a chromosome 6q24 duplication in two siblings with neonatal diabetes, in their non-diabetic father, and in a female (third generation) with adult-onset diabetes. The parents (first generation) were healthy and non-consanguineous. After a miscarriage, the couple had two infants with birth weights of 1780 and 1620 g, respectively, both of whom died on their second day of life. Patient I (male, weight 1840 g at term) had a blood glucose level of 33 mmol/L on day 6. He was treated with insulin for 3 months. In adult life he had permanent diabetes, treated with oral hypoglycemic agents. At 43 yr of age, there were no diabetic late complications. Patient II (female, birth weight 1440 g at term) had an increasing blood glucose of 55 mmol/L on day 13. She received insulin treatment for 12.5 months. Subsequently, she was successfully treated with sulfonylurea (tolbutamide) for 10 yr. At 11 yr of age, insulin was again considered necessary. At 40 yr of age, no diabetic late complications were detected. Patient III had a birth weight of 2630 g at term and no diabetic symptoms as a neonate. She had insulin-requiring diabetes from age 19. We conclude that (i) neonatal diabetes with chromosome 6q24 duplications may become a permanent disease in adult life; (ii) this chromosome anomaly may also be associated with adult-onset diabetes; (iii) sulfonylurea treatment may be attempted, and (iv) late diabetic complications may be absent, even after more than 40 yr
1399-543X
155-162
Søvik, Oddmund
412edfb9-a858-4a72-99ae-c48a6f2ea12d
Aagenaes, Øystein
90c32326-606a-4d6b-8f46-88ede8df38dc
Eide, Stig Å.
bf61d859-b750-4b8f-8c27-9044ebecf88e
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Temple, Isabel K
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Molven, Anders
aa2d177f-3c3b-41a2-b14f-0c7e91784679
Njølstad, Pål R.
c97f3871-6135-4b38-aa15-902fb9596172
Søvik, Oddmund
412edfb9-a858-4a72-99ae-c48a6f2ea12d
Aagenaes, Øystein
90c32326-606a-4d6b-8f46-88ede8df38dc
Eide, Stig Å.
bf61d859-b750-4b8f-8c27-9044ebecf88e
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Temple, Isabel K
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Molven, Anders
aa2d177f-3c3b-41a2-b14f-0c7e91784679
Njølstad, Pål R.
c97f3871-6135-4b38-aa15-902fb9596172

Søvik, Oddmund, Aagenaes, Øystein, Eide, Stig Å., Mackay, Deborah, Temple, Isabel K, Molven, Anders and Njølstad, Pål R. (2012) Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatric Diabetes, 13 (2), 155-162. (doi:10.1111/j.1399-5448.2011.00776.x). (PMID:21518169)

Record type: Article

Abstract

We present a Norwegian family, followed since 1967, with a chromosome 6q24 duplication in two siblings with neonatal diabetes, in their non-diabetic father, and in a female (third generation) with adult-onset diabetes. The parents (first generation) were healthy and non-consanguineous. After a miscarriage, the couple had two infants with birth weights of 1780 and 1620 g, respectively, both of whom died on their second day of life. Patient I (male, weight 1840 g at term) had a blood glucose level of 33 mmol/L on day 6. He was treated with insulin for 3 months. In adult life he had permanent diabetes, treated with oral hypoglycemic agents. At 43 yr of age, there were no diabetic late complications. Patient II (female, birth weight 1440 g at term) had an increasing blood glucose of 55 mmol/L on day 13. She received insulin treatment for 12.5 months. Subsequently, she was successfully treated with sulfonylurea (tolbutamide) for 10 yr. At 11 yr of age, insulin was again considered necessary. At 40 yr of age, no diabetic late complications were detected. Patient III had a birth weight of 2630 g at term and no diabetic symptoms as a neonate. She had insulin-requiring diabetes from age 19. We conclude that (i) neonatal diabetes with chromosome 6q24 duplications may become a permanent disease in adult life; (ii) this chromosome anomaly may also be associated with adult-onset diabetes; (iii) sulfonylurea treatment may be attempted, and (iv) late diabetic complications may be absent, even after more than 40 yr

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Accepted/In Press date: 24 April 2011
Published date: March 2012

Identifiers

Local EPrints ID: 183247
URI: http://eprints.soton.ac.uk/id/eprint/183247
ISSN: 1399-543X
PURE UUID: 6bb7fcd3-fb40-4a36-a0b4-eb40ec15040e
ORCID for Deborah Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for Isabel K Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 25 May 2011 07:44
Last modified: 05 Nov 2019 01:57

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Contributors

Author: Oddmund Søvik
Author: Øystein Aagenaes
Author: Stig Å. Eide
Author: Deborah Mackay ORCID iD
Author: Isabel K Temple ORCID iD
Author: Anders Molven
Author: Pål R. Njølstad

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