Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy
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چکیده
منابع مشابه
Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.
We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the mol...
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A case study of renal tubular dysfunction consistent with idiopathic Fanconi syndrome is reported in an 18-month-old Holstein heifer. The clinical, biochemical, and histopathological features are described. The heifer had clinical signs of growth retardation, wasting, and persistent diarrhea. Biochemical blood analysis identified hypokalemia, hyponatremia, and hypochloremia. Urinalysis identifi...
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A number of therapeutic drugs are toxic to the kidney proximal tubule (PT) and can cause the renal Fanconi syndrome (FS). The most frequently implicated drugs are cisplatin, ifosfamide, tenofovir, sodium valproate and aminoglycoside antibiotics, and the new oral iron chelator deferasirox has also recently been associated with FS. The incidence of full or partial FS is almost certainly under-est...
متن کاملUrinary L-lactate excretion is increased in renal Fanconi syndrome.
BACKGROUND Measurement of l-lactate in body fluids is an established clinical tool to identify disorders of cellular respiration. However, there is very little known about the clinical value of urinary lactate measurements. We investigated urinary lactate excretion in children with renal Fanconi syndrome. METHODS Freshly voided urine samples were obtained from children with Fanconi syndrome a...
متن کاملMistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
BACKGROUND In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain unknown. METHODS We clinically and genetically characterized members of a five-generation black family with isolated autosomal dominant Fanco...
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ژورنال
عنوان ژورنال: Cell Reports
سال: 2016
ISSN: 2211-1247
DOI: 10.1016/j.celrep.2016.04.037