Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syn...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Galenos Yayinevi
2019-09-01
|
Series: | Haseki Tıp Bülteni |
Subjects: | |
Online Access: |
http://www.hasekidergisi.com/archives/archive-detail/article-preview/early-diagnosis-of-fanconi-bickel-syndrome-and-a-n/30329
|
id |
doaj-4d3c0b425fb84c63977747a13172a812 |
---|---|
record_format |
Article |
spelling |
doaj-4d3c0b425fb84c63977747a13172a8122020-11-25T03:59:42ZengGalenos YayineviHaseki Tıp Bülteni1302-00722147-26882019-09-0157332833110.4274/haseki.galenos.2018.450413049054Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 GeneEzgi Çelikboya0Mehmet Şerif Cansever1Tanyel Zübarioğlu2Gözde Yeşil3Nurver Akıncı4 Sağlık Bilimleri Üniversitesi, Şişli Hamidiye Etfal Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, İstanbul, Türkiye Namık Kemal Üniversitesi, Sağlık Hizmetleri Meslek Yüksekokulu, Tıbbi Laboratuvar Teknikleri Bölümü, Tekirdağ, Türkiye Sağlık Bilimleri Üniversitesi, Şişli Hamidiye Etfal Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, Çocuk Metabolizma Bölümü, İstanbul, Türkiye Bezmialem Vakıf Üniversitesi Tıp Fakültesi Hastanesi, Tıbbi Genetik Kliniği, İstanbul, Türkiye Sağlık Bilimleri Üniversitesi, Şişli Hamidiye Etfal Eğitim ve Araştırma Hastanesi, Çocuk Sağlığı ve Hastalıkları Kliniği, Çocuk Nefroloji Bölümü, İstanbul, Türkiye Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL. Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications. http://www.hasekidergisi.com/archives/archive-detail/article-preview/early-diagnosis-of-fanconi-bickel-syndrome-and-a-n/30329 Fanconi-Bickel syndromeSCL2A2 genehyperglycemiaglycosuria |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ezgi Çelikboya Mehmet Şerif Cansever Tanyel Zübarioğlu Gözde Yeşil Nurver Akıncı |
spellingShingle |
Ezgi Çelikboya Mehmet Şerif Cansever Tanyel Zübarioğlu Gözde Yeşil Nurver Akıncı Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene Haseki Tıp Bülteni Fanconi-Bickel syndrome SCL2A2 gene hyperglycemia glycosuria |
author_facet |
Ezgi Çelikboya Mehmet Şerif Cansever Tanyel Zübarioğlu Gözde Yeşil Nurver Akıncı |
author_sort |
Ezgi Çelikboya |
title |
Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene |
title_short |
Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene |
title_full |
Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene |
title_fullStr |
Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene |
title_full_unstemmed |
Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene |
title_sort |
early diagnosis of fanconi-bickel syndrome and a novel mutation inslc2a2 gene |
publisher |
Galenos Yayinevi |
series |
Haseki Tıp Bülteni |
issn |
1302-0072 2147-2688 |
publishDate |
2019-09-01 |
description |
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL. Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications. |
topic |
Fanconi-Bickel syndrome SCL2A2 gene hyperglycemia glycosuria |
url |
http://www.hasekidergisi.com/archives/archive-detail/article-preview/early-diagnosis-of-fanconi-bickel-syndrome-and-a-n/30329
|
work_keys_str_mv |
AT ezgicelikboya earlydiagnosisoffanconibickelsyndromeandanovelmutationinslc2a2gene AT mehmetserifcansever earlydiagnosisoffanconibickelsyndromeandanovelmutationinslc2a2gene AT tanyelzubarioglu earlydiagnosisoffanconibickelsyndromeandanovelmutationinslc2a2gene AT gozdeyesil earlydiagnosisoffanconibickelsyndromeandanovelmutationinslc2a2gene AT nurverakıncı earlydiagnosisoffanconibickelsyndromeandanovelmutationinslc2a2gene |
_version_ |
1724453320622342144 |