منابع مشابه
Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood
Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous prog...
متن کامل5. Hereditary Kidney Disorders
Hereditary kidney disorders represent significant risk for the development of end stage renal desease (ESRD). Most of them are recognized in childhood, or prenataly particularly those phenotypicaly expressed as anomalies on ultrasound examination (US) during pregnancy. They represent almost 50% of all fetal malformations detected by US (1). Furthermore many of urinary tract malformations are as...
متن کاملHereditary Retinal Diseases
INTRODUCTION The spectrum of hereditary retinal disease in the dog is well defi ned and closely related to the intensive breeding patterns which are used in some breeds. Many retinopathies are often detected as the result of routine screening in the absence of dramatic clinical features or noticeable disturbance of sight for, while our clients may notice the painful or discoloured eye, few reco...
متن کامل[Hereditary systemic autoinflammatory diseases].
Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in gene...
متن کاملkiDney Diseases
Introduction. Recent studies have suggested theophylline for prevention of kidney dysfunction in asphyxia. This study was designed to determine whether theophylline could prevent or ameliorate kidney dysfunction in term neonates with perinatal asphyxia. Materials and Methods. We assigned 36 severely asphyxiated term infants (Apgar score ≤ 5) into 2 groups to receive intravenously a single dose ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1998
ISSN: 1468-6244
DOI: 10.1136/jmg.35.5.440