نتایج جستجو برای: polycystic kidneys
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Creutzfeldt disease and of hepatic coma is probably also due to a compensating action in the presence of a disordered dopaminergic system. Taken together, these findings suggest that triphasic waves occurring repetitively and regularly in an E.E.G. are caused by a disturbance of the dopaminergic system. The question arises whether the hyperkinesia and the coma are caused by disorders of two sep...
LAMININ 5 REGULATES POLYCYSTIC KIDNEYS CELL PROLIFERATION AND CYST FORMATION Dominique Joly, Sophie Berissi, Amélie Bertrand, Laetitia Strehl, Natacha Patey and Bertrand Knebelmann. From Université Paris-Descartes, Faculté de Médecine ; Inserm U813; AP-HP Hôpital Necker-Enfants-Malades, Paris, France Address correspondance to : Bertrand KNEBELMANN, Department of Nephrology, Hôpital Necker-Enfan...
Key words: orofacial syndrome type I; X-linked domin-were poorly formed and badly placed. At 7 years of ant disease; polycystic kidneys; renal replacement age she was unable to speak correctly because of therapy dysarthria. She had also diÃculty on moving (lack of balance, lack of accuracy). At 14 years of age she had a spinal fusion because of spondylolisthesis. One month before admission she ...
Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterised by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. But clinically unsuspected or atypical features may be discovered at autopsy or pathological study. One such rare case, diagnosed by ultrasound scan at 21weeks of gestation was terminated and present...
Introduction Von Recklinghausen's neurofibromatosis and adult polycystic disease of the kidneys (APDK) are both heredofamilial disorders (Preiser and Davenport, 1918; Dalgaard, 1971) although sporadic cases also occur (Wander and Dsgupta, 1977; Hatfield and Pfister, 1972). Both the conditions are known to occur in association with a number of other hereditary disorders (Dalgaard, 1971; Koch, 19...
A non-smoker adult male presented with haemoptysis of short duration. Chest radiograph (postero-anterior view) suggested an opaque left hemithorax. Further evaluation of lung lesion pointed towards a left lung hypoplasia with absent left pulmonary artery and a right-sided aortic arch (RAA). Both kidneys were enlarged with multiple cysts and thinning of parenchyma. This case describes a unique c...
A Pakistani couple, who were first cousins once removed through their fathers, and whose mothers were also related, had two liveborn children, a boy and a girl. Both children died within 2 hours of birth with occipital encephalocele, microcephaly, polycystic kidneys, and cystic distension of intrahepatic bile ducts. Both children had normal karyotypes. These abnormalities constitute Meckel's sy...
Autosomal dominant polycystic kidney disease may present to the emergency department (ED) with vomiting, abdominal pain or hernias, renal insufficiency or failure, or bleeding from cerebral aneurysms. A 37-year-old man presented to the ED with signs and symptoms of incarcerated inguinal hernia. Laboratory studies showed renal failure with anion gap acidosis, and bedside ultrasound showed multic...
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