The Experts below are selected from a list of 180 Experts worldwide ranked by ideXlab platform
Ebru Tuncez - One of the best experts on this subject based on the ideXlab platform.
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relative Hypoaldosteronism in a patient with wolcott rallison syndrome
Diabetic Medicine, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:BACKGROUND Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. CASE REPORT A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. CONCLUSIONS This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome.
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Relative Hypoaldosteronism in a patient with Wolcott‐Rallison syndrome
Diabetic medicine : a journal of the British Diabetic Association, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome. © 2016 The Authors. Diabetic Medicine © 2016 Diabetes UK.
Ahmet Uçar - One of the best experts on this subject based on the ideXlab platform.
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relative Hypoaldosteronism in a patient with wolcott rallison syndrome
Diabetic Medicine, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:BACKGROUND Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. CASE REPORT A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. CONCLUSIONS This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome.
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Relative Hypoaldosteronism in a patient with Wolcott‐Rallison syndrome
Diabetic medicine : a journal of the British Diabetic Association, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome. © 2016 The Authors. Diabetic Medicine © 2016 Diabetes UK.
Yasushi Asano - One of the best experts on this subject based on the ideXlab platform.
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Selective Hypoaldosteronism due to combined defects of the conversion from inactive renin to active renin and the aldosterone biosynthesis from corticosterone.
Nephron, 2001Co-Authors: Shigeaki Muto, Youichi Akai, Shuichi Ono, Eiji Kusano, Yasushi AsanoAbstract:A 24-year-old Japanese woman with IgA nephropathy exhibited a decreased serum aldosterone level with normal plasma renin activity after toxemia of pregnancy. Our studies revealed selective Hypoaldosteronism with normal adrenoglucocorticoid functions. Levels of serum corticosterone and deoxycorticosterone were normal. Resting plasma renin activity was normal, and plasma levels of total and inactive renin were increased. Rapid ACTH administration failed to stimulate any secretion of aldosterone, whereas it adequately increased serum cortisol, deoxycorticosterone, and corticosterone concentrations. Responses of both plasma renin activity and serum aldosterone level to the furosemide-posture challenge were blunted. Angiotensin II also failed to stimulate any secretion of aldosterone despite a progressive rise in blood pressure and an appropriate increase in serum corticosterone. These results suggest that combined defects of the conversion from inactive renin to active renin and aldosterone biosynthesis are the causes of selective Hypoaldosteronism in our patient.
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Hyperreninemic Hypoaldosteronism due to hepatocellular carcinoma metastatic to the adrenal gland.
Clinical nephrology, 1991Co-Authors: S. Otabe, Shigeaki Muto, Yasushi Asano, K. Sato, M. Ohtani, C. Kawamoto, K. Ido, Ken KimuraAbstract:Metastases to the adrenal glands are common in patients with cancer, but among those affected, hyperreninemic Hypoaldosteronism is noted very rarely. A case of hyperreninemic Hypoaldosteronism secondary to metastatic hepatocellular carcinoma is reported. Laboratory data revealed selective aldosterone deficiency with hyperreninemia. Biopsy documented replacement of the adrenal glands with metastatic hepatocellular carcinoma. A review of the literature disclosed that the present case was an extremely rare one of its kind.
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Selective Hypoaldosteronism in a patient with Sjögren's syndrome: insensitivity to angiotensin II.
Nephron, 1991Co-Authors: S. Otabe, Shigeaki Muto, Yasushi Asano, Etsuko Ohbu, Ken-ichi Koyama, Nobumitsu Okita, Kentaro Yamada, Kyohei NonakaAbstract:A 51-year-old Japanese woman with hypokalemia due to distal renal tubular acidosis associated with Sjögren's syndrome exhibited a decreased plasma aldosterone level despite elevated plasma renin activity. Our studies revealed selective Hypoaldosteronism with normal adrenoglucocorticoid function. In the presence of a low level of serum potassium (3.6 mEq/l), plasma levels of deoxycorticosterone and corticosterone were normal, while plasma aldosterone was very low. The levels of these three mineralocorticoids showed only minor changes during infusion of angiotensin II. Furosemide administration under almost the same level of serum potassium (3.7 mEq/l) resulted in only a slight increase of plasma aldosterone. Since hypokalemia might possibly suppress the synthesis of aldosterone in the zona glomerulosa, angiotensin II was also infused under a normal level of potassium (4.3 mEq/l). However, angiotensin II also failed to stimulate any secretion of aldosterone, despite a progressive rise in blood pressure and sufficient suppression of plasma renin activity. On the other hand, rapid ACTH administration in the presence of 4.4 mEq/l of serum potassium increased both plasma aldosterone and cortisol. These results suggest that adrenal insensitivity to angiotensin II was the cause of the selective Hypoaldosteronism in our patient, possibly due to a dysfunction of adrenal angiotensin II receptors, a disorder of postreceptors or both.
Ayse Dogan - One of the best experts on this subject based on the ideXlab platform.
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relative Hypoaldosteronism in a patient with wolcott rallison syndrome
Diabetic Medicine, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:BACKGROUND Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. CASE REPORT A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. CONCLUSIONS This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome.
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Relative Hypoaldosteronism in a patient with Wolcott‐Rallison syndrome
Diabetic medicine : a journal of the British Diabetic Association, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome. © 2016 The Authors. Diabetic Medicine © 2016 Diabetes UK.
Yusuf Aydemir - One of the best experts on this subject based on the ideXlab platform.
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relative Hypoaldosteronism in a patient with wolcott rallison syndrome
Diabetic Medicine, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:BACKGROUND Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. CASE REPORT A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. CONCLUSIONS This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome.
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Relative Hypoaldosteronism in a patient with Wolcott‐Rallison syndrome
Diabetic medicine : a journal of the British Diabetic Association, 2016Co-Authors: Ahmet Uçar, Yusuf Aydemir, Ayse Dogan, Ebru TuncezAbstract:Wolcott-Rallison syndrome is an autosomal recessive, multisystem disorder with onset of diabetes in the neonatal period or early infancy. A 9-year-old girl with diabetes and growth failure from 2 months of age presented with ketoacidosis and multiple organ failure. Evaluation for short stature revealed epiphyseal dysplasia. A homozygous mutation in the EIF2AK3 gene confirmed the clinical diagnosis of Wolcott-Rallison syndrome. She was euthyroid. Biochemical evaluation for potential adrenal dysfunction because of persistently elevated serum potassium (range 5.9-6.3 meq/l) and low serum sodium levels (range 128-130 meq/l) 2 weeks after resolution of ketoacidosis yielded normal findings with respect to basal corticotropin (31 pg/ml) and cortisol (18.7 μg/dl) levels. Estimated GFR-Schwartz (36.9 ml/min/1.73 m(2) ) was consistent with stage 3 chronic renal failure. The transtubular potassium gradient was 1.39 (normal value in hyperkalemic states: > 4.1). The plasma aldosterone (upright: 241.3 pmol/l) was within normal ranges, and plasma renin [39 pg/ml (range 5.41-34.53 pg/ml)] was slightly elevated. The patient was diagnosed as having relative Hypoaldosteronism and was started on a sodium-rich diet and low potassium. Failure to respond to the dietary intervention prompted a trial of oral fludrocortisone with subsequent normalization of electrolyte levels. This is the first case report of Wolcott-Rallison syndrome complicated with relative Hypoaldosteronism. Further research is needed to probe the causal inference of relative Hypoaldosteronism with chronic renal failure in patients with Wolcott-Rallison syndrome. © 2016 The Authors. Diabetic Medicine © 2016 Diabetes UK.