open access

Vol 4, No 4 (2015)
Case reports
Published online: 2015-10-16
Get Citation

Spontaneous mutation of the TCF2 gene as a cause of maturity-onset diabetes of the young type 5 (MODY5) — case report

Barbara Żmurowska, Agnieszka Szymczyk, Marta Darda, Natalia Kanas, Monika Pabisz, Anna Szcześniak, Andrzej Jaroszyński
DOI: 10.5603/DK.2015.0014
·
Diabetologia Kliniczna 2015;4(4):141-146.

open access

Vol 4, No 4 (2015)
Case reports
Published online: 2015-10-16

Abstract

MODY5 is one of the less common forms of MODY (1–2%). It is a genetic disorder inherited through an autosomal dominant mutation or deletion of the hepatocyte nuclear factor-1beta gene.

MODY5 is associated with genital tract malformations such as hypoplasia of uterus, hypoplasia of vagina, bicornuate uterus, other uterine malformations, hypospadias and atresia of vas deferens. Moreover, moderate idiopathic hyperuricaemia, elevated liver function tests (ALT, GGTP) without jaundice and with normal ultrasound image of the liver, pancreatic atrophy and pyloric stenosis were found in some patients. Objective: Description of the maturity-onset diabetes of the young type 5 (MODY5), a rare type of diabetes.

A 30-year-old woman, with no family history of diseases, was repeatedly seen by various healthcare professionals because of her numerous non-specific symptoms: pain in the forehead, stomach pain, retrosternal pain, lower limbs pain, reduced right eye visual acuity, dizziness, photosensitivity, syncope, diarrhoea, nausea, weight loss, fatigue, action tremor of the whole body most prominent in the right upper limb and muscle weakness most notable in the morning. She was diagnosed with diabetes and was initiated on insulin therapy. Blood samples were taken for immunological and genetic investigations. Testing revealed the patient is heterozygous for mutation of deletion of the hepatocyte nuclear factor-1beta gene, that is MODY5 gene. The patient was switched to OHA therapy. The mutation of factor-1beta was not found in the patient’s family.

Ultrasound scanning of the abdomen revealed a 12 mm cyst with massive wall calcification in the right kidney and one cyst with solid component and three small, simple cysts in the central part of the left kidney. It also showed a 50 mm right ovarian cyst, bicornuate uterus and a vaginal fibroma. Skin lesions on the right shin were identified as necrobiosis lipoidica. Laboratory tests showed high urine pH and periodic electrolyte disturbances such as hypokalemia.

Differential diagnosis that includes monogenic forms of diabetes may lead to optimization of treatment and more accurate evaluation of prognosis for patients and their family members.

Abstract

MODY5 is one of the less common forms of MODY (1–2%). It is a genetic disorder inherited through an autosomal dominant mutation or deletion of the hepatocyte nuclear factor-1beta gene.

MODY5 is associated with genital tract malformations such as hypoplasia of uterus, hypoplasia of vagina, bicornuate uterus, other uterine malformations, hypospadias and atresia of vas deferens. Moreover, moderate idiopathic hyperuricaemia, elevated liver function tests (ALT, GGTP) without jaundice and with normal ultrasound image of the liver, pancreatic atrophy and pyloric stenosis were found in some patients. Objective: Description of the maturity-onset diabetes of the young type 5 (MODY5), a rare type of diabetes.

A 30-year-old woman, with no family history of diseases, was repeatedly seen by various healthcare professionals because of her numerous non-specific symptoms: pain in the forehead, stomach pain, retrosternal pain, lower limbs pain, reduced right eye visual acuity, dizziness, photosensitivity, syncope, diarrhoea, nausea, weight loss, fatigue, action tremor of the whole body most prominent in the right upper limb and muscle weakness most notable in the morning. She was diagnosed with diabetes and was initiated on insulin therapy. Blood samples were taken for immunological and genetic investigations. Testing revealed the patient is heterozygous for mutation of deletion of the hepatocyte nuclear factor-1beta gene, that is MODY5 gene. The patient was switched to OHA therapy. The mutation of factor-1beta was not found in the patient’s family.

Ultrasound scanning of the abdomen revealed a 12 mm cyst with massive wall calcification in the right kidney and one cyst with solid component and three small, simple cysts in the central part of the left kidney. It also showed a 50 mm right ovarian cyst, bicornuate uterus and a vaginal fibroma. Skin lesions on the right shin were identified as necrobiosis lipoidica. Laboratory tests showed high urine pH and periodic electrolyte disturbances such as hypokalemia.

Differential diagnosis that includes monogenic forms of diabetes may lead to optimization of treatment and more accurate evaluation of prognosis for patients and their family members.

Get Citation

Keywords

MODY5 diabetes, renal cysts, spontaneous mutations

About this article
Title

Spontaneous mutation of the TCF2 gene as a cause of maturity-onset diabetes of the young type 5 (MODY5) — case report

Journal

Clinical Diabetology

Issue

Vol 4, No 4 (2015)

Pages

141-146

Published online

2015-10-16

DOI

10.5603/DK.2015.0014

Bibliographic record

Diabetologia Kliniczna 2015;4(4):141-146.

Keywords

MODY5 diabetes
renal cysts
spontaneous mutations

Authors

Barbara Żmurowska
Agnieszka Szymczyk
Marta Darda
Natalia Kanas
Monika Pabisz
Anna Szcześniak
Andrzej Jaroszyński

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

 

Wydawcą serwisu jest  "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl