congenital pancytopenia

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Related to Fanconi syndrome: Fanconi anemia
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Synonyms for congenital pancytopenia

References in periodicals archive ?
All this can occur with kidney infections, leptospirosis, drug reactions and tumours but what primarily separates Fanconi Syndrome is the presence of glucose in the urine when blood glucose is normal or even reduced.
The manifestations associated with unique cytoplasmic inclusions, which are generally crystalline in proximal tubular cells, represent the lesion that has been recognized in the literature as light chain Fanconi syndrome (49,53-57) (Figures 13 through 16).
Without appropriate safety advice, people may also take a larger prophylactic dose than recommended, as demonstrated by the case study linked to Fanconi syndrome.
Divergent Effects of MYO5B Mutations on Apical Brush Border and Apical Recycling Endosome Organization in Kidney and Intestinal Epithelial Cells of Microvillus Inclusion Disease Patients Presenting with Transient Renal Fanconi Syndrome.
1947) Studies on the mechanism of the Fanconi syndrome.
A medical report of SQU Hospital doctors says the child has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets.
Pulmonary arteriovenous malformation in its acquired form usually occurs in juvenile cirrhosis, but has also been reported in patients with trauma, pulmonary schistosomiasis, mitral stenosis, actinomycosis, Fanconi syndrome, and metastatic thyroid carcinoma (3).
Excess production of FGF23 epidermal naevus syndrome Abnormalities of renal Na dependent P co-transporter: Hereditary hypophosphataemic Inactivating mutation in rickets with hypercalciuria SLC34A3 gene Other defects of renal tubular function: Fanconi syndrome Proximal renal tubular acidosis Distal renal tubular acidosis FGF23, fibroblast growth factor 23; PHEX, phosphate regulating gene with homologies to endopeptidases on the X chromosome; DMP1, dentin matrix protein 1; FRP4, Frizzled-related protein 4; MEPE, matrix extracellular phosphoglycoprotein; SLC34A3, type IIc sodium- phosphate co-transporter
Variants of osteomalacia include vitamin D deficiency, renal tubular acidosis, Fanconi syndrome, vitamin D-dependent rickets types I and II, hypophosphatemic vitamin D-resistant rickets, oncogenic osteomalacia, and hypophosphatasia.
Cadmium, a toxic metallic element, is known to be the cause of Itai-itai Disease, considered to be a type of acquired Fanconi Syndrome characterized by kidney dysfunction and osteomalacia, which plagued a number of people, mainly women, in Toyama Prefecture in the 1950s.
Cadmium is known to be the cause of Itai-itai Disease, considered to be a type of acquired Fanconi Syndrome characterized by kidney dysfunction and osteomalacia, which plagued a number of people, mainly women, in Toyama Prefecture in the 1950s.
One of my teenaged clients has a rare mitochondrial disorder that has resulted in hearing and vision impairments, fine and gross motor difficulties, diabetes, and Fanconi syndrome (a kidney disorder leading to excessive excretion of bicarbonate, glucose, amino acids, phosphates, potassium and calcium).
In addition, several renal complications were reported, including six cases of Fanconi syndrome and nine cases of acute renal insufficiency, and there was one case of collagenous colitis.
Most common form is the infantile or nephropathy type form and is characterized by Fanconi syndrome with growth retardation, renal rickets, hypokalemia, polyuria, hypothyroidism and progressive renal failure.
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