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A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

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A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe. / Fazeli, Walid; Kaczmarek, Sigrid; Kirschstein, Martin; Santer, René.

In: BMC GASTROENTEROL, Vol. 15, 28.07.2015, p. Art. 90.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Fazeli, W, Kaczmarek, S, Kirschstein, M & Santer, R 2015, 'A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe', BMC GASTROENTEROL, vol. 15, pp. Art. 90. https://doi.org/10.1186/s12876-015-0316-0

APA

Fazeli, W., Kaczmarek, S., Kirschstein, M., & Santer, R. (2015). A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe. BMC GASTROENTEROL, 15, Art. 90. https://doi.org/10.1186/s12876-015-0316-0

Vancouver

Fazeli W, Kaczmarek S, Kirschstein M, Santer R. A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe. BMC GASTROENTEROL. 2015 Jul 28;15:Art. 90. https://doi.org/10.1186/s12876-015-0316-0

Bibtex

@article{3243eea7fb4e4d10aa693c7cfa66be2b,
title = "A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe",
abstract = "BACKGROUND: Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe.CASE PRESENTATION: After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with watery diarrhoea. On day 17, he was admitted to hospital with weight loss, hypertonic dehydration, and metabolic acidosis. Additionally, the patient showed an elevated calcium concentration in blood and urine as well as nephrocalcinosis. Diarrhoea stopped during intravenous rehydration and when feeding a glucose-, galactose-, and lactose-free formula. Therefore, glucose-galactose-malabsorption was assumed. However, genetic testing of the SGLT1 (SLC5A1) gene was negative and, indeed, feeding maltodextrine did not result in recurrence of diarrhoea. In contrast, lactose feeding immediately caused watery diarrhoea, suggesting congenital lactase deficiency. Genetic testing of the LCT gene revealed homozygosity for a 1-bp deletion in exon 8 (c.3448delT). Because of the nature of the mutation, causing a frame shift and a premature termination of translation, congenital lactase deficiency was confirmed and intestinal biopsies were unnecessary. The patient's general condition improved substantially on a lactose-free diet, including hypercalcaemia, hypercalciuria, and nephrocalcinosis which, however, only disappeared after months.CONCLUSION: This case demonstrates (a) that congenital lactase deficiency should be considered in cases of severe neonatal diarrhoea, (b) that intestinal biopsies can be avoided in typical cases that are confirmed by genetic testing, and",
author = "Walid Fazeli and Sigrid Kaczmarek and Martin Kirschstein and Ren{\'e} Santer",
note = "(c) that the associated nephrocalcinosis can be reversed on diet and an appropriate fluid management.",
year = "2015",
month = jul,
day = "28",
doi = "10.1186/s12876-015-0316-0",
language = "English",
volume = "15",
pages = "Art. 90",
journal = "BMC GASTROENTEROL",
issn = "1471-230X",
publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

AU - Fazeli, Walid

AU - Kaczmarek, Sigrid

AU - Kirschstein, Martin

AU - Santer, René

N1 - (c) that the associated nephrocalcinosis can be reversed on diet and an appropriate fluid management.

PY - 2015/7/28

Y1 - 2015/7/28

N2 - BACKGROUND: Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe.CASE PRESENTATION: After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with watery diarrhoea. On day 17, he was admitted to hospital with weight loss, hypertonic dehydration, and metabolic acidosis. Additionally, the patient showed an elevated calcium concentration in blood and urine as well as nephrocalcinosis. Diarrhoea stopped during intravenous rehydration and when feeding a glucose-, galactose-, and lactose-free formula. Therefore, glucose-galactose-malabsorption was assumed. However, genetic testing of the SGLT1 (SLC5A1) gene was negative and, indeed, feeding maltodextrine did not result in recurrence of diarrhoea. In contrast, lactose feeding immediately caused watery diarrhoea, suggesting congenital lactase deficiency. Genetic testing of the LCT gene revealed homozygosity for a 1-bp deletion in exon 8 (c.3448delT). Because of the nature of the mutation, causing a frame shift and a premature termination of translation, congenital lactase deficiency was confirmed and intestinal biopsies were unnecessary. The patient's general condition improved substantially on a lactose-free diet, including hypercalcaemia, hypercalciuria, and nephrocalcinosis which, however, only disappeared after months.CONCLUSION: This case demonstrates (a) that congenital lactase deficiency should be considered in cases of severe neonatal diarrhoea, (b) that intestinal biopsies can be avoided in typical cases that are confirmed by genetic testing, and

AB - BACKGROUND: Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe.CASE PRESENTATION: After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with watery diarrhoea. On day 17, he was admitted to hospital with weight loss, hypertonic dehydration, and metabolic acidosis. Additionally, the patient showed an elevated calcium concentration in blood and urine as well as nephrocalcinosis. Diarrhoea stopped during intravenous rehydration and when feeding a glucose-, galactose-, and lactose-free formula. Therefore, glucose-galactose-malabsorption was assumed. However, genetic testing of the SGLT1 (SLC5A1) gene was negative and, indeed, feeding maltodextrine did not result in recurrence of diarrhoea. In contrast, lactose feeding immediately caused watery diarrhoea, suggesting congenital lactase deficiency. Genetic testing of the LCT gene revealed homozygosity for a 1-bp deletion in exon 8 (c.3448delT). Because of the nature of the mutation, causing a frame shift and a premature termination of translation, congenital lactase deficiency was confirmed and intestinal biopsies were unnecessary. The patient's general condition improved substantially on a lactose-free diet, including hypercalcaemia, hypercalciuria, and nephrocalcinosis which, however, only disappeared after months.CONCLUSION: This case demonstrates (a) that congenital lactase deficiency should be considered in cases of severe neonatal diarrhoea, (b) that intestinal biopsies can be avoided in typical cases that are confirmed by genetic testing, and

U2 - 10.1186/s12876-015-0316-0

DO - 10.1186/s12876-015-0316-0

M3 - SCORING: Journal article

C2 - 26215149

VL - 15

SP - Art. 90

JO - BMC GASTROENTEROL

JF - BMC GASTROENTEROL

SN - 1471-230X

ER -