:

:
-

.
.. 2013

Update on diabetes classification Celeste C.Thomas, Louis H.Philipson

2015 ELSEVIER

-
/

Classification of diabetes mellitus and genetic diabetic syndromes
WWW.uptodate.com.2015

 2-5

% /

MODY

-
RD LAWRENCE LECTURE 2013

Monogenic diabetes mellitus due to defects

in insulin secretion
Christoph Henzen/2012

Monogenic diabetes mellitus due to defects

in insulin secretion
Christoph Henzen/2012

 2-5%

(
2-3 )

25

J Pediatr Endocr Met 2015
2010

MODY
14%
Glucokinase
(MODY2)

11%
(MODY x)

75%
M

69%
HNF1
(MODY3)

3%
HNF4
(MODY1)

3%
HNF1
MODY 5

<1%
IPF1
(MODY4)

<1%
NEURO D1
(MODY6)

FRAVLING ED AL DIABETES 2001

MODY1

HNF4A

Hepatocyte nuclear factor

MODY2

GCK

Glucokinase

MODY3

HNF1A

MODY4

IPF1

MODY5

HNF1B

MODY6

NEUROD1

Neurogenic differentiation factor 1

MODY7

KLF11

Kruppel-like factor 11

MODY8

CEL

carbosyl ester lipasy:

MODY9

PAX-4

Paired box gene 4

MODY10

INS

Insulin

MODY11

BLK

B-lymphocyte kinase

MODY12

ABCC8

MODY13

KCNJ 11

Insulin promotor factor 1

Anik et al: Maturity onset diabetes of the young

J Pediatr Endocr Met 2015

MODY:

Anik et al: Maturity onset diabetes of the young

J Pediatr Endocr Met 2015

Maturity-onset Diabetes of the Young (MODY) Genes: Literature Review

Attiya K. , Sahar F./2012

Classification of diabetes mellitus and genetic diabetic syndromes

WWW.uptodate.com.2015

Anik et al: Maturity onset diabetes of the young

J Pediatr Endocr Met 2015

 MODY

Anik et al: Maturity onset diabetes of the young

J Pediatr Endocr Met 2015

http://www.diabetesgenes.org/content/
mody-probability-calculator

Vs 1
6


C- 3
Vs 2
,
C-

RD LAWRENCE LECTURE 2013

6

:
ZAC/HYAMI (6q24 locus)
1
12 .
50%
:
Kir6.2 (KCNJ11) SUR 1
(ABCC8)
-
(: )
RD LAWRENCE LECTURE 2013
Update on diabetes classification Celeste C.Thomas, Louis H.Philipson
2015 ELSEVIER

Monogenic Diabetes: The Secret Is in the Gene

Megan M. Wiggins, PharmD*
Edward M. DeSimone II, RPh, PhD, FAPhA
US Pharm. 2013; 38(10)(Diabetes suppl):3-6.

3243 tRNA
AG.
: +

(
, )
(
,
)

2010

 1/3

90%

30%

2010

Monogenic Diabetes: The Secret Is in the Gene

Megan M. Wiggins, PharmD*
Edward M. DeSimone II, RPh, PhD, FAPhA
US Pharm. 2013; 38(10)(Diabetes suppl):3-6.

(
)

,
, (
: )
:

(.DONOHUE/LEPRECHAUNISM)
RABSON-MENDENHALL


19
(19p13.2) INSR

/.
(
)

(
). 10

-
,






-
/
:

:

: Seipin & AGPAT2 ()
: Lamin AC & PPARG ()

,
, ,
,
-
.
(Type A Insulin Resistance)

 -GAD

:
(stiff-man syndrome):

. 1/3

:
(
): ..
: .

. Down
. Klinefelter
. Turner
. Wolfram ( , , , ,
, )
Friedreich
Huntington
. Laurence-Moon-Biedl


. Prader-Willi

c-.

( Omnic).

> 30
> 6

c-

LADA knowledge and uncertainty E. Laugesen et al.

Diabetic Medicine 2015 Diabetes UK

BMC Endoccr Disord , 2015 jan 9;15(1):1,dol:10.1186/1472-6823-15-1

(anti-ICA)

(anti-IAA)

(anti-GAD)

(anti-IA2)

 Anti-GAD

+ Anti-ICA:

Anti-IA2 :
O
T
Anti-GAD , ~12ys

(+) ICA anti-GAD =
LADA
Diabet Med 2008;25:117125
Diabetes Care 2007;30:932938

LADA

30-90

> 35

0-35

GAD,
ICA, IA-2 (%)

/
()

(6 -10 )

> 6

C -

TYPE 2
DIABETES

LADA

PREVALENCE

More prevalent

Less prevalent

AGE AT ONSET

Older

Younger

BMI

Overweight/Obese

Normal
wheight/Overwheight

WAIST
CIRCUMFERENCE
HDL

>88 cm

<88cm

Low

High

TRG

High

Low

BLOOD PRESSURE

High

Low

METABOLIC
SYNDROME

Yes

No

Diabetes Voice September 2014 Volume 59 Issue 3

2013 by the American Diabetes Association

overlapping
diabetes
syndromes

Diabetes Voice September 2014 Volume 59 Issue 3

Diabetes Care 2015 Jan : 38(1):10.2337/dc 14-1770.Epub 2014 oct 21

GAD 65, ICA, IA-2

GAD 65:
ICA:
IA-2:
-

-
.
c-
6 min
.. 1
mg

. 1

SU THERAPY: could in turn speed the progression toward

- cell destruction and the need to introduce insulin therapy to
control hyperglycemia.
METFORMIN THERAPY: one potential problem is the
development of lactic acidosis in a patient at high risk of
becoming insulin-dependent.
GLITAZONE THERAPY: could in theory be the most
appropriate therapy for hyperglycemia in LADA
patients
Absence of any direct effect on stimulation of insulin secretion.
Increase insulin synthesis and the insulin content of islet cells as
well as improve the secretory response of islets
Anti-inflammatory properties.
Diabetes Care, Volume 24, number 8, Augost 2001

:

.

,
.
SU

C-.
TZD
-.
DPP4 ()
-
.
LADA knowledge and uncertainty E. Laugesen et al.
Diabetic Medicine 2015 Diabetes UK

December 1, 2014 171:6 697-704

LADA knowledge and uncertainty E. Laugesen et al.

Diabetic Medicine 15 JAN 2015 Diabetes UK

6 .

2.
:=100-150 mg/dl,
, .

,
.
c-
1.
> 6
2.

KCNJ11
ABCC8

.




.
,



.

ADA 2015