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  • 1
    Electronic Resource
    Electronic Resource
    Mild proteinuria in patients with unilateral kidney (1985)
    Springer
    Journal of molecular medicine 63 (1985), S. 1048-1051 
    Details
    ISSN: 1432-1440
    Keywords: Reduced renal mass ; Glomerular hyperperfusion ; Proteinuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Arterial blood pressure, 24 h urinary excretion, and glomerular filtration rate (GFR) in 24 patients with unilateral kidney were compared with an age and sex matched control group of healthy persons. Of the patients with unilateral kidney, 13 were uninephrectomized and 11 patients had a congenital unilateral kidney. The 24 h urinary protein excretion in patients with one kidney was significantly higher (630±51 mg/24 h) compared to the control group (206±36 mg/24 h). The arterial systolic and diastolic blood pressures and GFR did not differ in both groups. Furthermore, no differences were found between patients with unilateral kidneys following nephrectomy or renal agenesis. This study shows that mild proteinuria occurs in patients with unilateral kidney. An increased risk for deterioration in renal function or severe arterial hypertension was not detected in this investigation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01739671
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  • 2
    Electronic Resource
    Electronic Resource
    Early diagnosis of multiple endocrine neoplasia type IIa (1989)
    Springer
    Journal of molecular medicine 67 (1989), S. 951-956 
    Details
    ISSN: 1432-1440
    Keywords: Multiple endocrine neoplasia type IIa ; Pheochromocytoma ; Medullary thyroid carcinoma ; Hyperparathyroidism ; Chromosome banding studies ; DNA linkage analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report on incidental findings during family screening of two kindreds with multiple endocrine neoplasia type IIa. Pheochromocytoma and medullary thyroid carcinoma of considerable size were detected. The results underline the importance of early diagnosis of the syndrome, since the afflicted may be almost or wholly asymptomatic. High resolution chromosome banding studies were carried out in both families, but no abnormality was found. Linkage analysis using DNA markers closely related to the chromosomal locus at chromosome 10 was carried out and was positive in two asymptomatic offspring of one family, whereas the markers were not informative in a second family. We recommend early linkage analysis for establishing the genetic status in offspring of multiple endocrine neoplasia type IIa families to identify for further screening those who are predicted to be gene carrier.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01721424
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  • 3
    Electronic Resource
    Electronic Resource
    Genetics of hypertension: the pheochromocytoma model (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 729-730 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00213006
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Endolymphatic sac tumours (1998)
    Oxford, U.K. and Cambridge, USA : Blackwell Science Ltd
    Histopathology 33 (1998), S. 0 
    Details
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: This review article surveys clinical and pathological literature on endolymphatic sac tumours (ELST) and summarizes characteristics that describe the entity.ELST are rare neuroectodermal neoplasms in the petrous bone, originating from inner ear structures. They can be encountered sporadically or in von Hippel–Lindau disease. The most prominent symptom is sensorineural deafness. Historically, nomenclature of invasive adenoid tumours in the petrous bone has been divergent, the term papillary adenocarcinoma used most frequently. Histologically, they have a follicular or papillary and adenoid pattern that can be easily confused with various other neoplastic conditions including metastatic carcinoma. It remains to be verified whether similar tumours (papillary adenocarcinomas) can originate from the middle ear. Middle ear adenomas have a similar appearance but probably originate from neural crest cells in the middle ear. ELST can express a variety of epitopes (including cytokeratin and neuro-ectodermal markers) which can be detected immunohistochemically.In cases of von Hippel–Lindau disease the cerebello-pontine angle should be included in routine radiological examinations to detect ELST before the tumours lead to deafness. In apparently sporadic cases of ELST, genetic testing for von Hippel–Lindau disease should be considered. Correct distinction of ELST from metastatic carcinoma prevents futile searches for unknown primary tumours.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2559.1998.00460.x
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  • 5
    Electronic Resource
    Electronic Resource
    Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 7 (1994), S. 429-432 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases. We have performed linkage analysis in 16 ARPKD families and ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0794-429
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  • 6
    Electronic Resource
    Electronic Resource
    Retinal angiomatosis and von Hippel-Lindau disease (2000)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 238 (2000), S. 916-921 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Background: To evaluate the significance of angioma number (single or multiple) for the presence of von Hippel-Lindau (VHL) disease in patients presenting with capillary retinal angioma. Methods: Forty-one nonrelated patients presenting with capillary retinal angioma were evaluated. An ophthalmic workup, screening for other organ lesions, and molecular genetic screening for a mutation of the VHL gene was performed. The diagnosis of VHL was made on the basis of the personal and family history, the presence of other VHL-associated organ lesions, or the presence of a mutation of the VHL gene. Results: Thirteen patients (32%) presented with a single angioma and 28 patients (68%) presented with multiple angiomas. In 81% of all patients, VHL could be diagnosed. Diagnosis of VHL could be readily made by the personal or family history in 51% of all patients. In another 27% of all patients, VHL disease was evidenced by screening for other VHL-associated lesions. In two patients (3%) VHL could be diagnosed by molecular genetics only. All patients with multiple retinal angiomas had VHL disease and, in 38% of patients with a single angioma, VHL was present. Reasons for a missing family history in patients with VHL disease were the presence of a de novo mutation (15% of VHL patients) or clinical anticipation of VHL disease (18% of VHL patients). Conclusion: The presence of multiple retinal angiomas strongly suggests VHL disease, which, however, can be obscured by presence of a de novo mutation or by clinical anticipation of VHL disease in affected families. A single retinal angioma may be sporadic as well as the presenting sign of VHL. Diagnosis and screening for this multitumor syndrome is substantially supported by molecular genetics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004170000200
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  • 7
    Electronic Resource
    Electronic Resource
    Biadrenales Phäochromozytom bei einem Jungen (1999)
    Springer
    Monatsschrift Kinderheilkunde 147 (1999), S. 477-479 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Phäochromozytom ; Kindesalter ; Nebenniere ; Phakomatose ; Key words Pheochromocytoma ; Childhood ; Adrenal gland ; Phacomatosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary We report on a 8 year old boy in whom ophthalmological signs (scotoma, fundus hypertonicus stage IV) and an elevated blood pressure lead to the diagnosis of an isolated pheochromocytoma of the left adrenal. 6 months before, a cerebral convolsion was interpreted as a benign convulsion caused by infection. The boy was cured by adrenalectomy. However, 3 years after the initial diagnosis, he showed again typical clinical signs of a pheochromocytoma which was finally confirmed by laboratory tests and computertomography. The right adrenal was removed. Family history was negative. By molecular analysis, an association with von Hippel-Lindau disease was found. Discussion: Our case emphasizes the necessity to exclude a phacomatosis in all cases of pheochromocytoma.
    Notes: Zusammenfassung Wir berichten über einen 8 Jahre alten Jungen, bei dem 6 Monate nach einem unklaren zerebralen Krampfanfall aufgrund der augenärztlichen Symptomatik (Skotom, Fundus hypertonicus Grad IV) ein arterieller Hochdruck diagnostiziert wurde. Die weiteren Untersuchungen ergaben ein isoliertes Phäochromozytom der linken Nebenniere. Der Tumor wurde durch eine Adrenalektomie entfernt, und der Junge war im weiteren Verlauf beschwerdefrei. 3 Jahre später wurde er mit der gleichen klinischen Symptomatik wie bei der Erstdiagnose stationär aufgenommen. Jetzt wurde ein Phäochromozytom in der rechten Nebenniere diagnostiziert. Der Tumor wurde erneut mittels Adrenalektomie entfernt. Andere Tumoren konnten bislang bei dem Jungen nicht gefunden werden. Die Familienanamnese für Phäochromozytome war negativ. Die molekulargenetische Diagnostik ergab eine Mutation im Von-Hippel-Lindau-Gen. Diskussion: Auch bei einem isolierten biadrenalen Phäochromozytom muß eine Phakomatose molekulargenetisch ausgeschlossen werden. In unserem Fall wurde die Diagnose eines Von-Hippel-Lindau-Syndroms gestellt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050449
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  • 8
    Electronic Resource
    Electronic Resource
    Gefäßtumoren der Netzhaut (1999)
    Springer
    Der Onkologe 5 (1999), S. 805-812 
    Details
    ISSN: 1433-0415
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Retinale Angiome werden unterschieden in solche vom kapillären Typ und solche vom kavernösen Typ. Daneben ist der Typ des razemösen Angioms beschrieben worden, mit dem im allgemeinen eine arterio-venöse Malformation beim Wyburn-Mason Syndrom bezeichnet wird [2]. In dieser Übersicht werden die kapillären Angiome abgehandelt, während die kavernösen Angiome differentialdiagnostisch erwähnt werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007610050441
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  • 9
    Electronic Resource
    Electronic Resource
    Autosomal recessive and dominant forms of polycystic kidney disease are not allelic (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 221-222 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Linkage analysis has been carried out in 11 kindreds with autosomal recessive polycystic kidney disease (ARPKD) using the genetic marker 3'HVR, closely linked ( $$\hat \theta = 0.05$$ ) to the gene of the autosomal dominant type. Close linkage ( $$\hat \theta \leqq 0.20$$ ) between the locus of the marker and that of ARPKD can be excluded. These data strongly suggest that the loci for the autosomal recessive and dominant forms of polycystic kidney disease are not allelic.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284473
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