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I. Hanukoglu - One of the best experts on this subject based on the ideXlab platform.
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Exclusion of the Locus for Autosomal Recessive Pseudohypoaldosteronism Type 1 from the Mineralocorticoid Receptor Gene Region on Human
2015Co-Authors: Chromosome Linkage Q Analysis, E. Chung, A. Hanukoglui, M. Rees, R. Thompson, M. Dillon, I. Hanukoglu, T. Bistritzer, U. Kuhnle, J. SecklAbstract:Pseudohypoaldosteronism type 1 (PHAl) is an uncommon inher-ited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to Mineralocorticoids. Clinical expres-sion of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocorticoid receptor has been implicated as a likely cause of PHAl. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role ofMLR in autosomal recessive PHAl was investigated by performing linkage analysis between PHAl and three simple sequence length polymorphisms (D4S192,0431548, and 043413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritanc
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pseudohypoaldosteronism due to renal and multisystem resistance to Mineralocorticoids respond differently to carbenoxolone
The Journal of Steroid Biochemistry and Molecular Biology, 1997Co-Authors: Aaron Hanukoglu, Ariel Rösler, Omana Joy, Michael Steinitz, I. HanukogluAbstract:Type I pseudohypoaldosteronism (PHA) is a hereditary syndrome of salt wasting resulting from unresponsiveness to Mineralocorticoids. PHA is manifested in two clinically and genetically distinct forms, affecting either only the kidney or multiple target organs of aldosterone. We examined the mineralocorticoid effect of carbenoxolone (CBX) in young PHA patients with either renal or multisystem resistance to aldosterone to find out whether CBX may help reduce the requirement for a high-salt diet. CBX did not show any significant salt-retaining effect in two patients with multiple PHA, and did not affect the renin-aldosterone system. In contrast, CBX significantly suppressed the renin-aldosterone system in a renal PHA patient for the whole duration of treatment, but without a long-term salt-retaining effect. On CBX treatment, urinary cortisone levels decreased and the cortisol:cortisone ratio increased, indicating that CBX inhibited 11beta-HSD activity that metabolizes cortisol to cortisone. The complete lack of effect of CBX on the renin-aldosterone system in multisystem PHA patients indicates that CBX does not exert an effect via mineralocorticoid (MR) or glucocorticoid receptors. Examination of the structure and expression of the MR gene by Southern blot analysis and polymerase chain reaction (PCR) showed no abnormality. Whereas multiple PHA results from a spectrum of mutations in the mineralocorticoid activated epithelial sodium channel subunits, the genetic basis of renal PHA is still unknown. The response to CBX suggests that there is at least a partly functional MR in renal PHA patients.
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exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis
The Journal of Clinical Endocrinology and Metabolism, 1995Co-Authors: Eddie M K Chung, I. Hanukoglu, T. Bistritzer, U. Kuhnle, J. Seckl, Aaron Hanukoglu, Mark I Rees, Richard J Thompson, M J Dillon, R M GardinerAbstract:Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to Mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocorticoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provdes evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families.
Vielma Lemoine Christian - One of the best experts on this subject based on the ideXlab platform.
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Hipoadrenocorticismo en canino de 8 meses de edad reporte de caso
Bogotá : Universidad de Ciencias Aplicadas y Ambientales 2018, 2018Co-Authors: Vielma Lemoine ChristianAbstract:14 páginasEl hipoadrenocorticismo consiste en una deficiencia en la producción de mineralocorticoides y glucocorticoides por parte de las glándulas adrenales que puede tener múltiples orígenes, principalmente inmunomediado, es una endocrinopatía de baja prevalencia en caninos, que cursa con signos inespecíficos. Si se logra diagnosticar a tiempo, es posible garantizar una buena calidad de vida del paciente con la suplementación de glucocorticoides y mineralocorticoides de por vida. Una crisis Addisoniana aguda representa una emergencia, debido a la hipovolemia severa, deshidratación, hipotensión, alteraciones electrolíticas y anomalías ácido-base; esto aumenta el riesgo de muerte 1.9 veces en comparación a los pacientes clínicamente sanos. Se reporta el caso clínico de un paciente canino de 8 meses de edad, diagnosticado con enfermedad de Addison mediante la medición de hormonas, ACTH y cortisol basal, fue instaurado tratamiento y mantiene una buena calidad de vida. Un canino de 8 meses de edad llegó a la Clínica Veterinaria de Pequeños Animales de la Universidad de Ciencias Aplicadas y Ambientales (UDCA) el 11 de marzo, con historia de estranguria, disuria, tenesmo e incontinencia urinaria 8 días atrás. Como motivo de consulta presentaba: anorexia, letargia y debilidad. Al examen clínico presentó bradicardia y disminución de la condición corporal 2.5/5.0; posteriormente, presentó poliuria, polidipsia. Se realizó medición de electrolitos (P, Na y K), y hormonas, ACTH (5.0 pg/ml) y cortisol basal (27,6 nmol/L), con las cuales se confirmó el diagnóstico de enfermedad de Addison. El paciente nunca presentó alteraciones mineralocorticoides relevantes, por lo que se puede inferir que padecía de hipoadrenocorticismo secundario.Hypoadrenocorticism consists of a deficiency in the production of Mineralocorticoids and glucocorticoids by the adrenal glands that can have multiple origins, mainly immune-mediated; it is an endocrinopathy of low prevalence in canines, which presents with nonspecific signs. If diagnosis is made in time, it is possible to guarantee a good quality of life of the patient with glucocorticoid and mineralocorticoid supplementation for life. An acute Addisonian crisis represents an emergency, due to severe hypovolemia, dehydration, hypotension, electrolyte disturbances and acid-base abnormalities; this increases the risk of death 1.9 times compared to clinically healthy patients. We report the clinical case of an 8-month-old canine patient diagnosed with Addison's disease by measuring hormones, ACTH and basal cortisol, treatment was instituted and a good quality of life maintained. An 8-month-old dog arrived at the Small Animal Veterinary Clinic of the University of Applied and Environmental Sciences (UDCA) on March 11, with a history of stranguria, dysuria, tenesmus and urinary incontinence 8 days ago. As a reason for consultation presented: anorexia, lethargy and weakness. At the clinical examination he presented bradycardia and decreased body condition 2.5 / 5.0; subsequently, he presented polyuria, polydipsia. Electrolytes were measured (P, Na and K), and hormones, ACTH (5.0 pg / ml) and basal cortisol (27.6 nmol / L), with which the diagnosis of Addison's disease was confirmed. The patient never presented relevant mineralocorticoid alterations, so it can be inferred that he suffered from secondary hypoadrenocorticism.Incluye bibliografí
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Hipoadrenocorticismo en canino de 8 meses de edad reporte de caso
'Medicina Veterinaria (UFRPE)', 2018Co-Authors: Vielma Lemoine ChristianAbstract:14 páginasEl hipoadrenocorticismo consiste en una deficiencia en la producción de mineralocorticoides y glucocorticoides por parte de las glándulas adrenales que puede tener múltiples orígenes, principalmente inmunomediado, es una endocrinopatía de baja prevalencia en caninos, que cursa con signos inespecíficos. Si se logra diagnosticar a tiempo, es posible garantizar una buena calidad de vida del paciente con la suplementación de glucocorticoides y mineralocorticoides de por vida. Una crisis Addisoniana aguda representa una emergencia, debido a la hipovolemia severa, deshidratación, hipotensión, alteraciones electrolíticas y anomalías ácido-base; esto aumenta el riesgo de muerte 1.9 veces en comparación a los pacientes clínicamente sanos. Se reporta el caso clínico de un paciente canino de 8 meses de edad, diagnosticado con enfermedad de Addison mediante la medición de hormonas, ACTH y cortisol basal, fue instaurado tratamiento y mantiene una buena calidad de vida. Un canino de 8 meses de edad llegó a la Clínica Veterinaria de Pequeños Animales de la Universidad de Ciencias Aplicadas y Ambientales (UDCA) el 11 de marzo, con historia de estranguria, disuria, tenesmo e incontinencia urinaria 8 días atrás. Como motivo de consulta presentaba: anorexia, letargia y debilidad. Al examen clínico presentó bradicardia y disminución de la condición corporal 2.5/5.0; posteriormente, presentó poliuria, polidipsia. Se realizó medición de electrolitos (P, Na y K), y hormonas, ACTH (5.0 pg/ml) y cortisol basal (27,6 nmol/L), con las cuales se confirmó el diagnóstico de enfermedad de Addison. El paciente nunca presentó alteraciones mineralocorticoides relevantes, por lo que se puede inferir que padecía de hipoadrenocorticismo secundario.Hypoadrenocorticism consists of a deficiency in the production of Mineralocorticoids and glucocorticoids by the adrenal glands that can have multiple origins, mainly immune-mediated; it is an endocrinopathy of low prevalence in canines, which presents with nonspecific signs. If diagnosis is made in time, it is possible to guarantee a good quality of life of the patient with glucocorticoid and mineralocorticoid supplementation for life. An acute Addisonian crisis represents an emergency, due to severe hypovolemia, dehydration, hypotension, electrolyte disturbances and acid-base abnormalities; this increases the risk of death 1.9 times compared to clinically healthy patients. We report the clinical case of an 8-month-old canine patient diagnosed with Addison's disease by measuring hormones, ACTH and basal cortisol, treatment was instituted and a good quality of life maintained. An 8-month-old dog arrived at the Small Animal Veterinary Clinic of the University of Applied and Environmental Sciences (UDCA) on March 11, with a history of stranguria, dysuria, tenesmus and urinary incontinence 8 days ago. As a reason for consultation presented: anorexia, lethargy and weakness. At the clinical examination he presented bradycardia and decreased body condition 2.5 / 5.0; subsequently, he presented polyuria, polydipsia. Electrolytes were measured (P, Na and K), and hormones, ACTH (5.0 pg / ml) and basal cortisol (27.6 nmol / L), with which the diagnosis of Addison's disease was confirmed. The patient never presented relevant mineralocorticoid alterations, so it can be inferred that he suffered from secondary hypoadrenocorticism.Incluye bibliografíaPregradoMédico(a) Veterinari
R M Gardiner - One of the best experts on this subject based on the ideXlab platform.
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exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis
The Journal of Clinical Endocrinology and Metabolism, 1995Co-Authors: Eddie M K Chung, I. Hanukoglu, T. Bistritzer, U. Kuhnle, J. Seckl, Aaron Hanukoglu, Mark I Rees, Richard J Thompson, M J Dillon, R M GardinerAbstract:Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to Mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocorticoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provdes evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families.
Hiroshi Yamamoto - One of the best experts on this subject based on the ideXlab platform.
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vascular aldosterone biosynthesis and a link to angiotensin ii induced hypertrophy of vascular smooth muscle cells
Journal of Biological Chemistry, 1994Co-Authors: H Hatakeyama, Yoshiyu Takeda, Isamu Miyamori, T Fujita, Ryoyu Takeda, Hiroshi YamamotoAbstract:Mineralocorticoids have been suggested to act on blood vessels, leading to increased vasoreactivity and peripheral resistance. However, the site of their production has so far been believed to be only the adrenal cortex. Here, we show direct evidence that vascular cells per se are aldosteronogenic, possessing their own system that responds to the steroid. Using polymerase chain reaction after reverse transcription, the CYP11B2 mRNA encoding the key enzyme for the biosynthesis of aldosterone was detected in both endothelial cells and smooth muscle cells cultivated from human pulmonary artery. The aldosterone receptor (type 1 mineralocorticoid receptor) gene was also found to be expressed in smooth muscle cells and, to a lesser extent, in endothelial cells. CYP11B2 gene expression in smooth muscle cells was stimulated by angiotensin II, the effector peptide of the renin-angiotensin system. Furthermore, the angiotensin II-induced increase in [3H]leucine incorporation in smooth muscle cells was significantly enhanced by aldosterone but inhibited by ZK 91587, a type 1 mineralocorticoid receptor antagonist. This may indicate that vascular aldosterone participates in the angiotensin II-induced hypertrophy of vascular smooth muscle cells. The present study therefore provides the starting point for a novel understanding of the molecular basis of vascular remodeling and hypertension.
Aaron Hanukoglu - One of the best experts on this subject based on the ideXlab platform.
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pseudohypoaldosteronism due to renal and multisystem resistance to Mineralocorticoids respond differently to carbenoxolone
The Journal of Steroid Biochemistry and Molecular Biology, 1997Co-Authors: Aaron Hanukoglu, Ariel Rösler, Omana Joy, Michael Steinitz, I. HanukogluAbstract:Type I pseudohypoaldosteronism (PHA) is a hereditary syndrome of salt wasting resulting from unresponsiveness to Mineralocorticoids. PHA is manifested in two clinically and genetically distinct forms, affecting either only the kidney or multiple target organs of aldosterone. We examined the mineralocorticoid effect of carbenoxolone (CBX) in young PHA patients with either renal or multisystem resistance to aldosterone to find out whether CBX may help reduce the requirement for a high-salt diet. CBX did not show any significant salt-retaining effect in two patients with multiple PHA, and did not affect the renin-aldosterone system. In contrast, CBX significantly suppressed the renin-aldosterone system in a renal PHA patient for the whole duration of treatment, but without a long-term salt-retaining effect. On CBX treatment, urinary cortisone levels decreased and the cortisol:cortisone ratio increased, indicating that CBX inhibited 11beta-HSD activity that metabolizes cortisol to cortisone. The complete lack of effect of CBX on the renin-aldosterone system in multisystem PHA patients indicates that CBX does not exert an effect via mineralocorticoid (MR) or glucocorticoid receptors. Examination of the structure and expression of the MR gene by Southern blot analysis and polymerase chain reaction (PCR) showed no abnormality. Whereas multiple PHA results from a spectrum of mutations in the mineralocorticoid activated epithelial sodium channel subunits, the genetic basis of renal PHA is still unknown. The response to CBX suggests that there is at least a partly functional MR in renal PHA patients.
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exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis
The Journal of Clinical Endocrinology and Metabolism, 1995Co-Authors: Eddie M K Chung, I. Hanukoglu, T. Bistritzer, U. Kuhnle, J. Seckl, Aaron Hanukoglu, Mark I Rees, Richard J Thompson, M J Dillon, R M GardinerAbstract:Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to Mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the mineralocorticoid receptor has been implicated as a likely cause of PHA1. The gene for human mineralocorticoid receptor (MLR) has been cloned and physically mapped to human chromosome 4q31.1-31.2. The etiological role of MLR in autosomal recessive PHA1 was investigated by performing linkage analysis between PHA1 and three simple sequence length polymorphisms (D4S192, D4S1548, and D4S413) on chromosome 4q in 10 consanguineous families. Linkage analysis was carried out assuming autosomal recessive inheritance with full penetrance and zero phenocopy rate using the MLINK program for two-point analysis and the HOMOZ program for multipoint analysis. Lod scores of less than -2 were obtained over the whole region from D4S192 to D4S413 encompassing MLR. This provdes evidence against MLR as the site of mutations causing PHA1 in the majority of autosomal recessive families.
