Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome
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منابع مشابه
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
BACKGROUND Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Autosomal dominant idiopathic Fanconi syndrome (a renal proximal tubulopathy) is described but no genetic cau...
متن کاملHyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
SUMMARY HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported. LEARNING POINTS Urine specimen study in cases of HHI with diazoxide response is necessary to rule o...
متن کاملThe adult Fanconi syndrome.
DAWSON, D. W., and JOHNSON, J. (1958): Anticonvulsants and Megaloblastic Anaemia, Brit. med. J., i, 397. GIRDWOOD, R. H., and LENMAN, J. A. R. (1956): Anaemia occurring During Primidone Therapy, Brit. med. J., i, 146. GOUGH, K., READ, A., MCCARTHY, C., and WATERS, A. (1963): Megaloblastic Anaemia due to Nutritional Deficiency of Folic Acid, Quart. J. Med. N.S., 32, 243. HAWKINS, C. F., and MEYN...
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R enal Fanconi syndromes are both clinically challenging and physiologically fascinating. The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. With regard to the pathophysiology, the renal proximal tubule is the site of action. Through a complex and coordinated machinery of luminal and basolatera...
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Disruption of the centromere protein J gene, CENPJ (CPAP, MCPH6, SCKL4), which is a highly conserved and ubiquitiously expressed centrosomal protein, has been associated with primary microcephaly and the microcephalic primordial dwarfism disorder Seckel syndrome. The mechanism by which disruption of CENPJ causes the proportionate, primordial growth failure that is characteristic of Seckel syndr...
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ژورنال
عنوان ژورنال: JCI Insight
سال: 2018
ISSN: 2379-3708
DOI: 10.1172/jci.insight.97497