Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.23.15 (renin)
 35,795 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary hyperaldosteronism represents less tha 1% of all causes of hypertension. We report one case of primary hyperaldosteronism which emphasizes the difficulty of distinguishing tumoral PHA from idiopathic PHA (bilateral adrenal hyperplasia), observed in a 57-year-old man. The diagnosis was suggested by marked hypokalemia, and was confirmed by hyperaldosteronaemia and low and poorly stimulated renin activity. Intravenous saline infusion failed to significantly suppress plasma aldosterone levels. Upright posture for 60 minutes suppressed plasma aldosterone concentration. A Computed tomography (CT) scan showed bilateral adrenal mass. Management consisted of total right adrenalectomy, and enucleation of adenoma from the opposite adenoma. The patient is normotensive 4 years after surgery.
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PMID:[Bilateral Conn's adenoma. Diagnostic discussions]. 1246 32

Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement. Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated. After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis. Based on these findings, the patient was diagnosed with CAH. It turned out later that the patient had PHA1. Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication. Conclusions and Outcome. This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1. Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death. The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH.
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PMID:Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia. 2690 17

Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient. Further investigations revealed defective secretion of GH and gonadotropins and anterior pituitary gland hypoplasia. Genetic analyses revealed a previously known heterozygous KLHL3 mutation (p.Leu387Pro), but no mutation was detected in 27 genes associated with congenital hypopituitarism. He was treated with sodium restriction and recombinant human GH, which normalized growth velocity. This is the first report of a molecularly confirmed patient with PHA II complicated by congenital hypopituitarism. We speculate that both GH deficiency and metabolic acidosis contributed to growth failure. Endocrinological investigations will help to individualize the treatment of patients with PHA II presenting with growth failure.
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PMID:A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. 2778 Sep 82

Laboratory diagnosis of primary hyperaldosteronism is based on determining blood levels of aldosterone, renin on request, potassium, and sodium. The results of these studies are significantly influenced by drugs, preparation for the study and blood collection methods, age, gender, and concomitant diseases. The work analyzes the factors influencing the results of the study of aldosterone and identifies the main ways of their exclusion at each stage of the diagnosis. Their neglecting is the determining factor in obtaining false results, diagnostic errors, the selection of ill-treatment tactics, and inadequate treatment. All these diagnostic problems are covered in a variety of ways in the review, which is based on the analysis of results of individual authors' research and practical and clinical recommendations from leading world endocrinological associations. Results of laboratory diagnostics of PHA depend on the influence of many factors. Among them, it is essential to use different medication drugs, the rules for preparing for the study, and the method of conducting it. In assessing the results of research, it is necessary to take into account not only the indicators of the level of aldosterone in the blood but also the features of the clinical course of the disease, its compliance to the drug therapy, age, and gender of the patients.
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PMID:Topical Diagnosis and Determination of the Primary Hyperaldosteronism Variant. 3202 48

Systemic pseudohypoaldosteronism is a rare salt wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunites. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosteron and renin levels are expected findings of this disease. It is difficult to manage this disease due to high dose oral replacement therapy. Furthermore patients with systemic pseudohypoaldosteronism require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. Also he developed myocarditis and hypertension in follow-up. Difficulties in diagnosis and treatment of this patient were discussed in this report. Also we review the literature on common features of patients with SCNN1B variant.
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PMID:Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review. 3284 96