Clinical and laboratory features of Macedonian childre ...
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Clinical and laboratory feature ...
OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this ...
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Age-related stature and linear ...
Children with X-linked hypophosphatemic rickets (XLH) are prone to severe stunting. A multicenter mixed-longitudinal study was conducted to assess a ...
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Semaphorins in kidney developme ...
Semaphorins are guidance proteins that play important roles in organogenesis and disease. Expression of class 3 semaphorins and their receptors is r ...
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The impact of pediatric nephrot ...
The objective of our study was to assess the psychologic and economic effects of pediatric nephrotic syndrome (NS) on caregivers. Caregivers of 50 c ...
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An unusual case of hyperkalaemi ...
PHA type II is a rare but interesting disorder because of the unusual association of hypertension with hyperkalemia which appears to indicate a disa ...
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Hypochloremic metabolic alkalos ...
CLD is a rare autosomal recessive disease occurring mainly in people in Arabian countries, Finland, and Poland [1–3]. It is characterized by unremit ...
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Renal manifestations of patient ...
MYH9-related disorders are a group of autosomal, dominantly inherited disorders caused by mutations of the MYH9 gene, which encodes the non-muscle m ...
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Pathogenesis, diagnosis and man ...
Hyperkalemia is a potentially life-threatening condition in which serum potassium exceeds 5.5 mmol/l. It can be caused by reduced renal excretion, e ...
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Imaging of the urinary tract: t ...
Computed tomography (CT) and magnetic resonance imaging (MRI) are increasingly valuable tools for assessing the urinary tract in adults and children ...
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Defining and redefining the nep ...
It has long been appreciated that the mammalian kidney arises via reciprocal interactions between an epithelial ureteric epithelium and the surround ...
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A 10-year-old boy with dark uri ...
Mitochondrial fatty acid â-oxidation (FAO) is essential for energy homeostasis in skeletal muscle under conditions that require simultaneous glucose ...
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Fetal environment, epigenetics, ...
The notion that some adult diseases may have their origins in utero has recently captured scientists’ attention. Some of these effects persist acros ...
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Abdominal pain in a female adol ...
Differential diagnosis of abdominal pain in a female teenager with autosomal dominant polycystic kidney disease (ADPKD) and insulin-dependent diabet ...
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Microvascular disease in childr ...
The incidence of type 1 diabetes (T1D) is increasing worldwide and is associated with a significant burden, mainly related to the development of vas ...
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aHUS caused by complement dysre ...
Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutatio ...
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Patterning and early cell linea ...
Specification of the intermediate mesoderm and the epithelial derivatives that will make the mammalian kidney depends on the concerted action of man ...
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TRPC channel modulation in podo ...
Glomerular kidney disease is a major healthcare burden and considered to represent a sum of disorders that evade a refined and effective treatment. ...
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New therapies in steroid-sensit ...
Although many children with idiopathic nephrotic syndrome (INS) respond initially to steroid therapy, repeated courses for patients with relapses of ...
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Dent’s disease: clinical featur ...
Dent’s disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis ...
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Abdominal pain in a female adol ...
A 16-year-old white female presented to the emergency department (ED) with complaints of multiple episodes of vomiting, colicky left flank, and lowe ...
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Genetics of congenital anomalie ...
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 1 in 500 births and are a major cause of morbidity in children. Notably, CAKUT ...
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Cystinosis: practical tools for ...
Cystinosis is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal pro ...
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Biomarkers of acute kidney inju ...
Acute kidney injury (AKI) in children is associated with increased mortality and prolonged length of hospital stay and may also be associated with l ...
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Renal amyloidosis in children
Renal amyloidosis is a detrimental disease caused by the deposition of amyloid fibrils. A child with renal amyloidosis may present with proteinuria ...
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Ciliopathies: an expanding dise ...
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation ...
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