Polyglandular autoimmune syndrome (PAS) is a group of syndromes comprised of glandular and extra-glandular disorders characterized by autoimmunity. A 57-year-old woman presented with acute progressive dyspnea and generalized weakness for several months. The patient was assessed to have acute congestive heart failure with cardiomyopathy, chronic renal failure with hyporeninemic hypoaldosteronism, and pancytopenia in addition to primary hypothyroidism and adrenal insufficiency. With the diagnosis of PAS type 2 complicated by multiple organ failure (MOF), medium-dose prednisolone (30 mg/d) was introduced primarily to control the activity of autoimmunity, which triggered MOF over the adrenal insufficiency. Levothyroxine (25 microg/d) was followed for replacement of the thyroid hormone deficiency. However, the symptoms and signs fluctuated, depending on the dosage of prednisolone, and progressively worsened by empty sella syndrome and aplastic anemia. Here, we report on a case of PAS type 2 with MOF and atypical complications, and suggest that recognition, assessment, and control of PAS as a systemic autoimmune disease may be essential.
Adrenal Insufficiency ; Anemia, Aplastic* ; Autoimmune Diseases ; Autoimmunity ; Cardiomyopathies ; Diagnosis ; Dyspnea ; Empty Sella Syndrome* ; Female ; Heart Failure ; Humans ; Hypoaldosteronism ; Hypothyroidism ; Kidney Failure, Chronic ; Middle Aged ; Multiple Organ Failure* ; Pancytopenia ; Prednisolone ; Thyroid Gland ; Thyroxine

Hyperkalemia is often detected in young infants, particularly in association with acute pyelonephritis or a urinary tract anomaly. Cases of hyperkalemia in this population may also be due to transient pseudohypoaldosteronism, or immaturity of renal tubules in handling potassium excretion. Symptoms of hyperkalemia are non-specific, but are predominantly related to skeletal or cardiac muscle dysfunction, and can be fatal. Therefore, treatment has to be initiated immediately. Administration of fludrocortisone for hyperkalemia is appropriate in cases with hypoaldosteronism, but is challenging in young infants with hyperkalemia due to renal tubular immaturity, without pseudohypoaldosteronism. We report the case of a 25-day-old male presenting with persistent hyperkalemia with normal serum aldosterone, who was admitted with a first episode of pyelonephritis and unilateral high-grade vesicoureteral reflux. The patient was treated successfully with fludrocortisone.
Aldosterone* ; Fludrocortisone ; Humans ; Hyperkalemia* ; Hypoaldosteronism ; Infant ; Male ; Myocardium ; Potassium ; Pseudohypoaldosteronism ; Pyelonephritis* ; Urinary Tract ; Vesico-Ureteral Reflux

Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as gonadal, pancreatic, and adrenal dysfunction are being reported. But, Electrolytes imbalance is a very rare condition in patients with DM1 yet. Herein we present a 42-yr-old Korean male of DM1 with abnormally elevated serum sodium and potassium. The patient had minimum volume of maximally concentrated urine without water loss. It was only cured by normal saline hydration. The cause of hypernatremia was considered by primary hypodipsia. Hyperkalemic conditions such as renal failure, pseudohyperkalemia, cortisol deficiency and hyperkalemic periodic paralysis were excluded. Further endocrine evaluation suggested selective hyperreninemic hypoaldosteronism as a cause of hyperkalemia.
Adult ; Humans ; Hyperkalemia/complications/*diagnosis ; Hypernatremia/complications/*diagnosis ; Hypoaldosteronism/complications/diagnosis ; Kidney Concentrating Ability ; Male ; Myotonic Dystrophy/complications/*diagnosis/*genetics ; Potassium/blood ; Protein-Serine-Threonine Kinases/*genetics ; Sodium/blood

Hyperkalemic periodic paralysis is characterized by episodic flaccid paralysis of the skeletal muscles due to an increase in serum potassium concentrations. Primary hyperkalemic periodic paralysis is caused by point mutations in SCN4A, encoding a voltage-gated skeletal muscle sodium channel. However, hyperkalemia-related diseases, such as renal failure, adrenal insufficiency, hypoaldosteronism, and chronic diuretic use, can induce secondary hyperkalemic periodic paralysis. Diagnosis of this disease is based on clinical features, nerve conduction studies, and a DNA sequence analysis. In cases of diagnostic uncertainty, a provocation test can be used to ensure the correct diagnosis. Here, we report a case of secondary hyperkalemic periodic paralysis with hyperkalemia that was induced by diabetic nephropathy, and review the relevant literature.
Adrenal Insufficiency ; Diabetic Nephropathies ; Dietary Sucrose ; Hyperkalemia ; Hypoaldosteronism ; Muscle, Skeletal ; Neural Conduction ; Paralysis ; Paralysis, Hyperkalemic Periodic ; Point Mutation ; Potassium ; Renal Insufficiency ; Sequence Analysis, DNA ; Sodium Channels ; Uncertainty

Hypokalemia usually reflects total body potassium deficiency, but less commonly results from transcellular potassium redistribution with normal body potassium stores. The differential diagnosis of hypokalemia includes pseudohypokalemia, cellular potassium redistribution, inadequate potassium intake, excessive cutaneous or gastrointestinal potassium loss, and renal potassium wasting. To discriminate excessive renal from extrarenal potassium losses as a cause for hypokalemia, urine potassium concentration or TTKG should be measured. Decreased values are indicative of extrarenal losses or inadequate intake. In contrast, excessive renal potassium losses are expected with increased values. Renal potassium wasting with normal or low blood pressure suggests hypokalemia associated with acidosis, vomiting, tubular disorders or increased renal potassium secretion. In hypokalemia associated with hypertension, plasam renin and aldosterone should be measured to differentiated among hyperreninemic hyperaldosteronism, primary hyperaldosteronism, and mineralocorticoid excess other than aldosterone or target organ activation. Hypokalemia may manifest as weakness, seizure, myalgia, rhabdomyolysis, constipation, ileus, arrhythmia, paresthesias, etc. Therapy for hypokalemia consists of treatment of underlying disease and potassium supplementation. The evaluation of hyperkalemia is also a multistep process. The differential diagnosis of hyperkalemia includes pseudohypokalemia, redistribution, and true hyperkalemia. True hyperkalemia associated with decreased glomerular filtration rate is associated with renal failure or increased body potassium contents. When glomerular filtration rate is above 15 mL/min/1.73m2, plasma renin and aldosterone must be measured to differentiate hyporeninemic hypoaldosteronism, primary aldosteronism, disturbance of aldosterone action or target organ dysfunction. Hyperkalemia can cause arrhythmia, paresthesias, fatigue, etc. Therapy for hyperkalemia consists of administration of calcium gluconate, insulin, beta2 agonist, bicarbonate, furosemide, resin and dialysis. Potassium intake must be restricted and associated drugs should be withdrawn.
Acidosis ; Aldosterone ; Arrhythmias, Cardiac ; Calcium Gluconate ; Constipation ; Diagnosis, Differential ; Dialysis ; Fatigue ; Furosemide ; Glomerular Filtration Rate ; Gluconates ; Hyperaldosteronism ; Hyperkalemia ; Hypertension ; Hypoaldosteronism ; Hypokalemia ; Hypotension ; Ileus ; Insulin ; Paresthesia ; Plasma ; Potassium ; Potassium Deficiency ; Renal Insufficiency ; Renin ; Rhabdomyolysis ; Seizures ; Vomiting

After renal transplantation, we are more likely to encounter hyperkalemia rather than hypokalemia. We report a case of kidney transplantation recipient with hypokalemia and hypertension secondary to primary aldosteronism. A 48 year-old woman was presented with fatigue and weight loss that had lasted for 3 months. She was diagnosed as autosomal dominant polycystic kidney disease that ultimately progressed to end-stage renal disease. She was operated for renal transplantation before 6 months. She had hypokalemia and hypertension at that time. The ratio of plasma aldosterone over plasma renin activity was 851.7. The computed tomography (CT) revealed 2.4x1.7 cm sized adrenal mass on the right side. The pre-transplantation CT also showed that there had been adrenal mass in the same location even before the transplantation. Right adrenalectomy was performed. After she got discharged, she was again presented with nausea and vomiting. She developed hyperkalemia and was diagnosed as hyporeninemic hypoaldosteronism. She was prescribed with fludrocortisones and recovered from the disease, and resumed the state of normokalemia and normotension.
Adrenalectomy ; Aldosterone ; Fatigue ; Female ; Humans ; Hyperaldosteronism ; Hyperkalemia ; Hypertension ; Hypoaldosteronism ; Hypokalemia ; Kidney Failure, Chronic ; Kidney Transplantation ; Nausea ; Plasma ; Polycystic Kidney, Autosomal Dominant ; Renin ; Transplants ; Vomiting ; Weight Loss

Potassium balance and serum potassium level are maintained until very late in chronic kidney disease (CKD), mainly because of an increase in renal and colonic excretion. Hyperkalemia may develop earlier in the course of CKD in patients with hyporeninemic hypoaldosteronism. Hyperkalemia in CKD patients may occur in association with excess dietary potassium intake, constipation or prolonged fasting. It may also be seen with the use of potassium-sparing diuretics, angiotensin converting enzyme inhibitors, angiotensin receptor blockers, and non-steroidal anti-inflammatory drugs. If suspected, pseudohyperkalemia should be excluded to avoid unnessary treatments. Acute treament of hyperkalemia in marked or symptomatic hyperkalemia, particularly in the presence of electrocardiographic changes includes combinations of intravenous calcium gluconate and infusions of glucose and insulin with or without bicarbonate. In patients with kidney failure, dialysis may be required. Either asymptomatic and mild hyperkalemia or chronic hyperkalemia in CKD patients can be treated by potassium restriction, a loop diuretic at high doses, and cation exchange resin.
Angiotensin Receptor Antagonists ; Angiotensin-Converting Enzyme Inhibitors ; Calcium Gluconate ; Colon ; Constipation ; Dialysis ; Diuretics ; Electrocardiography ; Fasting ; Glucose ; Humans ; Hyperkalemia* ; Hypoaldosteronism ; Insulin ; Potassium ; Potassium, Dietary ; Renal Insufficiency ; Renal Insufficiency, Chronic*

Child ; Female ; Humans ; Hypoaldosteronism ; complications ; Kidney Calculi ; complications

Primary aldosteronism is due to either a unilateral adrenal adenoma or bilateral hyperplasia of the adrenal cortex in most cases. A unilateral adrenalectomy in hypertensive and hypokalemic patients, with a well-documented adrenal adenoma, is usually followed by the correction of hypokalemia in all subjects, with the cure of hypertension in 60 to 87% of patients. Here, a unique case, in which a unilateral adrenalectomy for the removal of an adrenal adenoma was followed by severe hyperkalemia, low levels of plasma renin activity and serum aldosterone, suggestive of chronic suppression of the renin-aldosterone axis, is reported. In a follow-up Lasix stimulation test on the 70th day after surgery, the suppression of the renin-aldosterone axis was resolved, indicating the suppression was transient. Patients undergoing a unilateral adrenalectomy for an aldosterone-producing adenoma should be closely followed up to avoid severe hyperkalemia.
Adenoma* ; Adrenal Cortex ; Adrenalectomy ; Aldosterone ; Axis, Cervical Vertebra ; Follow-Up Studies ; Furosemide ; Humans ; Hyperaldosteronism ; Hyperkalemia ; Hyperplasia ; Hypertension ; Hypoaldosteronism* ; Hypokalemia ; Plasma ; Renin

POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal M protein, and skin lesion) is a rare multisystemic disease of unknown cause with varying clinical manifestations. Amyloidosis-associated POEMS Syndrome is also rare condition. We experienced a 63-year-old female who had been suffered from edema and tingling sensation of low extremities. She also had a marked demyelination, axonal degeneration and regeneration of the nerve, hypoaldosteronism, hyperprolactinemia, decreased sexual hormone, monoclonal gammopathy (IgG lambda type), skin change and ascites. The renal biopsy revealed homogenous mesangial widening with a few cell nuclei at the glomerular capillary, and it showed positive apple-green birefringence in Congo-red stain. It's the first report that shows the deposition of amyloid in patients with POEMS syndrome in Korea. Edema and M-spike were improved by use of prednisolone, melphalan, fludrocortisone and colchicine.
Amyloid ; Amyloidosis* ; Ascites ; Axons ; Biopsy ; Birefringence ; Capillaries ; Cell Nucleus ; Colchicine ; Demyelinating Diseases ; Edema ; Extremities ; Female ; Fludrocortisone ; Humans ; Hyperprolactinemia ; Hypoaldosteronism ; Korea ; Melphalan ; Middle Aged ; Paraproteinemias ; POEMS Syndrome* ; Prednisolone ; Regeneration ; Sensation ; Skin