First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G

2016 ◽  
Vol 18 (8) ◽  
pp. 844-847 ◽  
Author(s):  
Renata Pomahačová ◽  
Jana Zamboryová ◽  
Josef Sýkora ◽  
Petra Paterová ◽  
Karel Fiklík ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Czech Republic ◽  
Novel Mutation ◽  
Megaloblastic Anemia ◽  
Monogenic Diabetes ◽  
Rare Form ◽  
The Czech Republic ◽  
Intron 1 ◽  
Slc19a2 Gene

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

2020 ◽  
Vol 33 (12) ◽  
pp. 1605-1608
Author(s):  
Xiao Qin ◽  
Jingzi Zhong ◽  
Dan Lan
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Form ◽  
Case Presentation ◽  
Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

scholarly journals Incidence of Diabetes Mellitus Narrowly Correlates with Unemployment Rate during 2000-2012 in the Czech Republic

2016 ◽  
Vol 24 (1) ◽  
pp. 86-87 ◽  
Author(s):  
Jan Brož ◽  
Marek Brabec ◽  
Denisa Janíčková Žďárská ◽  
Martina Novotná ◽  
Milan Kvapil
Keyword(s):  
Diabetes Mellitus ◽  
Czech Republic ◽  
Unemployment Rate ◽  
The Czech Republic

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

2020 ◽  
Author(s):  
Anita Spehar Uroic ◽  
Dragan Milenkovic ◽  
Elisa De Franco ◽  
Ernest Bilic ◽  
Natasa Rojnic Putarek ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Autosomal Recessive ◽  
Megaloblastic Anemia ◽  
Sensorineural Deafness ◽  
Autosomal Recessive Disorder ◽  
Missense Variant ◽  
Severe Anemia ◽  
Thiamine Therapy ◽  
Compound Heterozygotes ◽  
Slc19a2 Gene

AbstractThiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C > T; p.(Gln125Ter) and novel missense variant, c.1214C > G; p.(Thr405Arg) in SLC19A2 gene. The first was diagnosed at 4 months with diabetes mellitus and severe anemia requiring transfusions. As TRMA was suspected, thiamine therapy was immediately started to prevent further transfusions and insulin therapy. His brother developed extreme anemia at 3 weeks of age while waiting for the results of the genetic test. Severe anemia in this sibling may have been prevented if thiamine had been initiated earlier.

Sign in / Sign up

Export Citation Format

Share Document