Nephrogenic diabetes insipidus in a patient with L1 syndrome

Autor: Mieke Kerstjens, Noël Knops, Krista K. Bos, Karin van Dael, Yvonne J. Vos
Přispěvatelé: Faculteit Medische Wetenschappen/UMCG
Jazyk: angličtina
Rok vydání: 2008
Předmět:
Male
ARHGAP4
Receptors
Vasopressin
Diabetes Insipidus
Nephrogenic
CHILDREN
DISEASE
Pregnancy
Arginine vasopressin receptor 2
Global developmental delay
MUTATION
Genetics (clinical)
X-chromosome
Genetic Diseases
X-Linked
Syndrome
RECEPTOR GENE
Child
Preschool
Female
INACTIVATION
medicine.symptom
hydrocephalus
hormones
hormone substitutes
and hormone antagonists
L1 syndrome
Adult
medicine.medical_specialty
Molecular Sequence Data
Neural Cell Adhesion Molecule L1
Contiguous gene syndrome
Polyuria
nephrogenic diabetes insipidus
Internal medicine
Genetics
medicine
Humans
AVPR2
DNA Primers
Chromosomes
Human
X
Base Sequence
business.industry
Infant
Nephrogenic diabetes insipidus
medicine.disease
Hydrocephalus
Endocrinology
L1CAM
Diabetes insipidus
CELLS
contiguous gene deletion
business
Gene Deletion
Zdroj: American Journal of Medical Genetics. Part A, 146A(14), 1853-1858. Wiley
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.32386
Popis: We report on.in infant boy \vitli congenital hydrocephatLis CILle to 1.1 syndrorne and p0lyUria dne to diabetes itisipidtis. We initially believed Ins excessive Lirine loss was froin central diabetes insipidLIS and diat the cerebral inalforniation caused a secondary insufficient pitnitary vasopressin release. However, lie failed to respond to treatnient with a vasopressin analOgLie, wliicli pointed to neplirogenic diabetes insipidus (NDI). LI syndrorne and X-linked NDI are distinct clinical disorders caLISed J-)y inutations in the LICAM and A'VTR2 genes, respectively, located in adjacent positions in Xq28. In this boy we foLind a deletion of 61,577 basepairs enconipassing the entire LlCAM and A 11711?2 genes and extending into introit 7 of the APJ-IGAI-'4 gene. To oLir knowledge this is the first description of a patient Nvitli a deletion of these diree genes. He is the second patient to be described with Ll syndrorne and NDL DUI-ing fOIIO\V-LIJ) lie inanifested cornplications front the hydroceplialLis and NI)l inClUding global developniental delay and gro, vtli faikire -,vith low IGF-I and liypotliyroidisni. (c) 2008 wile\'-Liss Inc.
Databáze: OpenAIRE
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