scholarly journals Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.

1992 ◽  
Vol 2 (8) ◽  
pp. 1310-1317
Author(s):  
A Tolaymat ◽  
A Sakarcan ◽  
R Neiberger
Keyword(s):  
Diabetes Mellitus ◽  
Renal Failure ◽  
Clinical Studies ◽  
Fanconi Syndrome ◽  
Autosomal Dominant ◽  
Clinical Aspects ◽  
Single Family ◽  
Idiopathic Fanconi Syndrome ◽  
Biochemical Evaluation ◽  
Characteristic Features

Fanconi syndrome is a rare cause of rickets in children. Only six families with Fanconi syndrome following an autosomal dominant pattern of inheritance have been reported. In this report, the results of clinical studies performed in three generations of a family of 39 members with autosomal dominant Fanconi syndrome are presented. Twenty-one members of this family provided blood and urine for biochemical evaluation. Many family members have one or more tubular reabsorptive abnormalities; however, the complete Fanconi syndrome was not present in most members. Three children with the complete syndrome all occur in the last generation. When the characteristic features of this family were compared with those of previously reported families with autosomal dominant Fanconi syndrome, several differences became apparent. Two serious manifestations, diabetes mellitus and renal failure, which occur in previous reports did not occur in this family. This report provides information on apparently the largest number of affected individuals in a single family with Fanconi syndrome. In addition, variable expressivity of tubular reabsorptive defects in a family with Fanconi syndrome has never been reported.

scholarly journals Urinary Megalin Deficiency Implicates Abnormal Tubular Endocytic Function in Fanconi Syndrome

2002 ◽  
Vol 13 (1) ◽  
pp. 125-133
Author(s):  
Anthony G. W. Norden ◽  
Marta Lapsley ◽  
Takashi Igarashi ◽  
Catherine L. Kelleher ◽  
Philip J. Lee ◽  
...  
Keyword(s):  
Fanconi Syndrome ◽  
Autosomal Dominant ◽  
Apical Cell ◽  
Sodium Dodecyl ◽  
Tubular Proteinuria ◽  
Renal Fanconi Syndrome ◽  
Dent’S Disease ◽  
Mean Values ◽  
Dent's Disease ◽  
Idiopathic Fanconi Syndrome

ABSTRACT. Normal reabsorption of glomerular filtrate proteins probably requires recycling of the endocytic receptors megalin (gp330) and cubilin. Both receptors are located on the luminal surface of the renal proximal tubule epithelium. Whether abnormal amounts of receptor are present in the urine of patients with Dent’s disease, Lowe’s syndrome, or autosomal dominant idiopathic Fanconi syndrome was explored. They are all forms of the renal Fanconi syndrome and are associated with tubular proteinuria. Urine samples of equal creatinine contents were dialyzed, lyophilized, and subjected to electrophoresis on nonreducing sodium dodecyl sulfate-5% polyacrylamide gels. Proteins were blotted and probed with anti-megalin IgG, anti-cubilin IgG, or receptor-associated protein. Megalin and cubilin levels detected by immunochemiluminescence were measured as integrated pixels and expressed as percentages of the normal mean values. A striking deficiency of urinary megalin, compared with normal individuals (n = 42), was observed for eight of nine families with Dent’s disease (n = 10) and for the two families with Lowe’s syndrome (n = 3). The family with autosomal dominant idiopathic Fanconi syndrome (n = 2) exhibited megalin levels within the normal range. The measured levels of cubilin were normal for all patients. These results are consistent with defective recycling of megalin to the apical cell surface of the proximal tubules and thus decreased loss into urine in Dent’s disease and Lowe’s syndrome. This defect would interfere with the normal endocytic function of megalin, result in losses of potential ligands into the urine, and produce tubular proteinuria.

Metabolic Abnormalities in the Idiopathic Fanconi Syndrome: Studies of Carbohydrate Metabolism in Two Patients

PEDIATRICS ◽  
1981 ◽  
Vol 67 (1) ◽  
pp. 113-118
Author(s):  
Russell W. Chesney ◽  
Bernard S. Kaplan ◽  
David Teitel ◽  
Eleanor Colle ◽  
Roderick R. McInnes ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Fatty Acids ◽  
Fanconi Syndrome ◽  
Elevated Serum ◽  
Sensory Neuropathy ◽  
Metabolic Abnormalities ◽  
Serum Free Fatty Acids ◽  
Serum Free ◽  
Idiopathic Fanconi Syndrome ◽  
Insulin Secretory Response

Two patients with idiopathic Fanconi syndrome and glucose intolerance were studied from a metabolic perspective. They had fasting hyperglycemia, massive glucosuria, insulinopenia, ketosis, and elevated serum free fatty acids. There was a markedly blunted insulin secretory response to glucagon, tolbutamide, glucose, and arginine. One patient had the findings of diabetic retinopathy and a sensory neuropathy. Neither patient could convert galactose to glucose, but they did not have galactosemia. As a result of these studies, and previous reports in which similar changes were noted, we conclude that diabetes mellitus may occur in patients who have had idiopathic Fanconi syndrome for many years.

scholarly journals Sociodemographic and clinical profile of patients undergoing treatment with peritoneal dialysis

2011 ◽  
Vol 5 (7) ◽  
pp. 1723
Author(s):  
Nayana Camurça de Araújo ◽  
Roberta Jeane Bezerra Jorge ◽  
Anne Gabrielle Sousa ◽  
Islene Victor Barbosa
Keyword(s):  
Diabetes Mellitus ◽  
Renal Failure ◽  
Peritoneal Dialysis ◽  
Family Income ◽  
Clinical Profile ◽  
Clinical Aspects ◽  
Health Profile ◽  
Research Committee ◽  
Future Studies ◽  
Dialysis Method

 ABSTRACT Objective: to describe the sociodemographic and clinical profile of patients undergoing treatment with peritoneal dialysis. Method: this is an exploratory, descriptive, and quantitative study. The sample consisted of 35 patients from three dialysis clinics in Fortaleza, Ceará, Brazil. Patients were undergoing peritoneal dialysis for at least a year, they were aged over 18 years, and they were able to understand and communicate verbally. Data were collected between February and March 2009 using a questionnaire covering the sociodemographic and clinical aspects. The study was approved by the Ethics and Research Committee of University of Fortaleza under Protocol 004/2009. Results: prevalence of the following characteristics: female (60%); 50-59 years (31,4%); married (54,3%); incomplete primary education (37,1%); without a paid job (85,7% ); family income up to a minimum wage (68,6%); living in Fortaleza (74,3%); diabetes mellitus as major cause of chronic renal failure (37.1%); lack of vascular access as motivation for receiving peritoneal dialysis (45,7%). Conclusion: the results may be useful to drive actions and improve the nursing assistance, as well as provide a basis for future studies in this area. Descriptors: peritoneal dialysis; health profile; nursing. RESUMO Objetivo: descrever o perfil sociodemográfico e clínico de pacientes em tratamento de diálise peritoneal. Métodos: trata-se de uma pesquisa exploratória, descritiva, de natureza quantitativa. A amostra foi composta de 35 pacientes de três clínicas de diálise da cidade de Fortaleza-CE. Os pacientes estavam em tratamento de diálise peritoneal há pelo menos um ano, possuíam idade superior a 18 anos e capacidade de compreensão e/ou comunicação verbal. Os dados foram coletados no período de fevereiro a março de 2009 com o auxílio de um questionário contemplando os aspectos sociodemográficos e clínicos. O estudo foi aprovado pelo comitê de Ética e Pesquisa da Universidade de Fortaleza, sob o número 004/2009. Resultados: predominaram as seguintes características: feminino (60%); 50-59 anos (31,4%); casados (54,3%); Ensino Fundamental Incompleto (37,1%); sem atividade remunerada (85,7%); renda familiar de até um salário mínimo (68,6%); residência em Fortaleza (74,3%); diabetes mellitus como principal etiologia da insuficiência renal crônica (37,1%); falta de acesso vascular como motivação para o ingresso na diálise peritoneal (45,7%). Conclusão: os resultados podem direcionar ações para a melhoria da assistência de enfermagem, como também, servir de base para futuros estudos na área. Descritores: diálise peritoneal; perfil de saúde; enfermagem. RESUMEN Objetivo: describir el perfil socio-demográfico y clínico de pacientes bajo tratamiento de dálisis peritoneal. Métodos: se trata de una pesquisa exploratoria, descriptiva, de naturaleza cuantitativa. La muestra se compone de 35 pacientes de tres clínicas de diálisis de la ciudad de Fortaleza, Ceará, Brasil. Los pacientes estaban en tratamiento de diálisis peritoneal desde hace al menos un año. Tienen edad superior a los 18 años y capacidad de comprensión o comunicación verbal. Se recolectaron los datos en el periodo comprendido entre febrero y marzo de 2009 con el auxilio de un cuestionario que contempla los aspectos socio-demográficos y clínicos. El estudio fue aprobado por el Comité de Ética y Pesquisa de la Universidad de Fortaleza con el número 004/2009. Resultados: predominaron las siguientes características: femenino (60%); 50-59 años (31,4%); casados (54,3%); Enseñanza Primaria Incompleta (37,1%); sin actividad remunerada (85,7%); renta familiar de hasta un salario mínimo (68,6%); residencia en Fortaleza (74,3%); Diabetes melittus como principal etiología de la insuficiencia renal crónica (37,1%); falta de acceso vascular como motivo para el ingreso en diálisis peritoneal (45,7%). Conclusión: los resultados pueden dirigir las acciones para mejorar la asistencia de enfermería, así como también ser base para futuros estudios en el área. Descriptores: diálisis peritoneal; perfil de salud; enfermería.

Autosomal dominant Fanconi syndrome with early renal failure

1978 ◽  
Vol 2 (3) ◽  
pp. 225-232 ◽  
Author(s):  
Aaron L. Friedman ◽  
Carl W. Trygstad ◽  
Russell W. Chesney ◽  
John M. Opitz
Keyword(s):  
Renal Failure ◽  
Fanconi Syndrome ◽  
Autosomal Dominant

Myotone Dystrophie Typ 2/proximale myotone Myopathie

2004 ◽  
Vol 23 (08) ◽  
pp. 447-453
Author(s):  
T. Müller ◽  
T. Wieser
Keyword(s):  
Diabetes Mellitus ◽  
Autosomal Dominant ◽  
Kognitive Defizite ◽  
Kausale Therapie ◽  
Rna Foci ◽  
Myotone Dystrophie ◽  
Proximale Myotone Myopathie

ZusammenfassungDie myotone Dystrophie Typ 2 ist eine autosomal-dominant vererbte, multisystemische Erkrankung. Klinische Hauptmerkmale sind proximale Paresen und Atrophien, Myotonie und Katarakt. Eine Vielzahl assoziierter Symptome in wechselnder Ausprägung ist beschrieben worden, darunter Schmerzen der Muskulatur, Erhöhung der CK und der Leberwerte, Glukose-Intoleranz bzw. Diabetes mellitus und andere endokrine Auffälligkeiten, Hörstörungen, kognitive Defizite, Veränderungen der weißen Substanz in der MRT und möglicherweise Herzmuskelbeteiligung. Im Vergleich mit der myotonen Dystrophie Typ 1 (Curschmann-Steinert-Dystrophie) ist der Verlauf deutlich milder. Auslöser ist eine Mutation im ZNF9 Gen auf Chromosom 3. Die Funktion dieses Gens und der Pathomechanismus, der zu dem komplexen Phänotyp dieser Erkrankung führt, ist nicht bekannt. Spekuliert wird, dass toxische RNA-Foci über Beeinflussung der Translation negativ auf ZNF9 und benachbarte Gene wirken. Die Diagnose kann molekulargenetisch durch Nachweis der Mutation gestellt werden. Eine kausale Therapie steht nicht zur Verfügung, neben der Operation der Katarakt steht Physiobzw. Ergotherpie im Vordergrund.

Renal Failure after Coronary Bypass Surgery and the Associated Risk Factors

2015 ◽  
Vol 18 (1) ◽  
pp. 006
Author(s):  
Hasan Reyhanoglu ◽  
Kaan Ozcan ◽  
Murat Erturk ◽  
Fatih İslamoglu ◽  
İsa Durmaz
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Renal Failure ◽  
Coronary Artery ◽  
Coronary Artery Bypass ◽  
Bypass Surgery ◽  
Artery Bypass ◽  
Significant Risk ◽  
High Morbidity ◽  
Factors Associated

<strong>Objective:</strong> We aimed to evaluate the risk factors associated with acute renal failure in patients who underwent coronary artery bypass surgery.<br /><strong>Methods:</strong> One hundred and six patients who developed renal failure after coronary artery bypass grafting (CABG) constituted the study group (RF group), while 110 patients who did not develop renal failure served as a control group <br />(C group). In addition, the RF group was divided into two subgroups: patients that were treated with conservative methods without the need for hemodialysis (NH group) and patients that required hemodialysis (HR group). Risk factors associated with renal failure were investigated.<br /><strong>Results:</strong> Among the 106 patients that developed renal failure (RF), 80 patients were treated with conservative methods without any need for hemodialysis (NH group); while <br />26 patients required hemodialysis in the postoperative period (HR group). The multivariate analysis showed that diabetes mellitus and the postoperative use of positive inotropes and adrenaline were significant risk factors associated with development of renal failure. In addition, carotid stenosis and postoperative use of adrenaline were found to be significant risk factors associated with hemodialysis-dependent renal failure (P &lt; .05). The mortality in the RF group was determined as 13.2%, while the mortality rate in patients who did not require hemodialysis and those who required hemodialysis was 6.2% and 34%, respectively.<br /><strong>Conclusion:</strong> Renal failure requiring hemodialysis after CABG often results in high morbidity and mortality. Factors affecting microcirculation and atherosclerosis, like diabetes mellitus, carotid artery stenosis, and postoperative vasopressor use remain the major risk factors for the development of renal failure.<br /><br />

Neuropathy in the gut. Gut motility disorders in patients with diabetes mellitus

2012 ◽  
Vol 153 (16) ◽  
pp. 607-614
Author(s):  
Tibor Wittmann
Keyword(s):  
Diabetes Mellitus ◽  
Blood Glucose ◽  
Treatment Modalities ◽  
Clinical Aspects ◽  
Gut Motility ◽  
Motility Disorders ◽  
The Everyday ◽  
Patients With Diabetes ◽  
Leading Symptom ◽  
Different Parts

The extent and severity of motility disorders remains heterogeneous in the different parts of the gut, and in most cases failures in gut motility do not correspond with the severity of the symptoms. If diarrhea or fecal incontinence is the leading symptom, or the blood glucose level varies frequently and considerably despite the treatment efforts, the motility of the stomach and bowels is seriously disturbed. The clinical aspects, detailed pathogenesis, diagnostic approach and treatment modalities of gastrointestinal motility disorders in diabetes mellitus are reviewed to help and improve the everyday medical practice. Orv. Hetil., 2012, 153, 607–614.

Effect of Curcuma longa and Galega orientalis on renal function in rats with experimental diabetes mellitus and acute renal failure

2019 ◽  
pp. 88-95
Author(s):  
Р.И. Айзман ◽  
А.П. Козлова ◽  
Е.И. Гордеева ◽  
М.С. Головин ◽  
Г.А. Корощенко ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Renal Failure ◽  
Renal Function ◽  
Acute Renal Failure ◽  
Experimental Diabetes ◽  
Curcuma Longa ◽  
Diabetic Rats ◽  
Standard Diet ◽  
Experimental Diabetes Mellitus ◽  
Galega Orientalis

Цель - исследование влияния куркумы длинной и галеги восточной на осмо- и ионорегулирующую функции почек крыс при аллоксан-индуцированном сахарном диабете и острой почечной недостаточности в эксперименте. Методика. Эксперименты выполнены на самцах крыс Wistar (n=70) с моделью сахарного диабета (1-я серия) и острой почечной недостаточности (2-я серия). В обеих сериях животные были поделены на 3 группы: крыс 1-й группы содержали на стандартном корме, крысам остальных групп в корм добавляли куркуму (2-я группа) или галегу (3-я группа) (2% от массы корма). На 7-е сут эксперимента проводили исследование диуретической и ионоуретической функций почек натощак и после 5% водной нагрузки. Концентрацию ионов в моче и плазме определяли методом пламенной фотометрии; осмотическую концентрацию биологических жидкостей - методом криоскопии; биохимические показатели крови - колориметрическим методом. Результаты. У животных с сахарным диабетом фоновый диурез, а также экскреция натрия и калия были статистически значимо выше, чем у контрольных животных. При острой почечной недостаточности наблюдался более низкий уровень диуреза и ионоуреза, особенно после водной нагрузки. Прием куркумы и галеги вызывал улучшение осмо- и ионорегулирующей функции почек у крыс с сахарным диабетом, и практически не влиял на эти функции почек при острой почечной недостаточности. Заключение. При сахарном диабете оба фитопрепарата вызывали понижение концентрации глюкозы, креатинина, мочевины и улучшение ионно-осмотических показателей плазмы крови, при этом эффект куркумы был выражен отчетливее. При острой почечной недостаточности эти фитопрепараты не давали описанного эффекта. Aim. To study effects of the phytomedicines, Curcuma longa and Galega orientalis, on osmosis- and ion-regulating renal functions in rats with experimental diabetes mellitus (DM) and acute renal failure (ARF). Methods. Experiments were performed in two series on Wistar male rats (n=70) with modeled diabetes mellitus (series 1) and acute renal failure (series 2). In each series, the animals were divided into 3 groups, 1) rats of group 1 receiving a standard diet; 2) rats of groups 2 and 3 receiving a standard diet supplemented with turmeric or galega (2% of food weight), respectively. On the 7th day of the experiment, the diuretic and ionuretic renal function was studied in fasting state and after 5% water loading. Concentrations of ions in urine and plasma were determined by flame photometry; osmotic concentrations of biological fluids were measured by cryoscopy; blood biochemical parameters were measured by colorimetry. Results. In diabetic rats, background diuresis and sodium and potassium excretion were significantly higher than in the control animals. In rats with acute renal failure, diuresis and ionuresis were significantly lower, particularly after the water loading. Turmeric and galega supplementation improved the osmotic and ion-regulating renal function in diabetic rats and left practically unchanged these functions in rats with acute renal failure. Conclusion. In rats with diabetes mellitus, both herbal remedies reduced concentrations of glucose, creatinine, and urea and improved ion-osmotic parameters of blood plasma with a more pronounced effect of turmeric. In acute renal failure, these phytomedicines did not produce the described effects.

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