Abstract
Syndromes of mineralocorticoid excess (SME) are closely related clinical manifestations occurring within a specific set of diseases. Overlapping clinical manifestations of such syndromes often create a dilemma in accurate diagnosis, which is crucial for disease surveillance and management especially in rare genetic disorders. Here we demonstrate the use of whole exome sequencing (WES) for accurate diagnosis of rare SME and report that p.R337C variation in the HSD11B2 gene causes progressive apparent mineralocorticoid excess (AME) syndrome in a South Indian family of Mappila origin.
Highlights
Syndromes of mineralocorticoid excess (SME) are a group of syndromes characterized by an abnormal activation of the amiloride-sensitive sodium channels in the distal tubules of the kidney resulting in an abnormal salt balance
apparent mineralocorticoid excess (AME) is a rare heterogeneous low renin retention SME disorder that manifests with severe juvenile hypertension, hypokalemic alkalosis, low birth weight, failure to thrive, poor growth, and in many cases nephrocalcinosis caused by homozygous and compound heterozygous mutations in the HSD11B2 gene
Our family presented with features of mineralocorticoid excess, nephrocalcinosis, autosomal recessive inheritance pattern and varying degrees of renal dysfunction with low aldosterone and plasma renin activity (PRA)
Summary
Syndromes of mineralocorticoid excess (SME) are a group of syndromes characterized by an abnormal activation of the amiloride-sensitive sodium channels in the distal tubules of the kidney resulting in an abnormal salt balance. He was started on spironolactone (50mg daily) in addition to amlodipine (10mg) and metoprolol (50 mg daily) with which his blood pressure came under control His younger brother, who was 28-year-old, had a similar presentation in the form of hypokalemic paralysis at 15 and accelerated hypertension at age 18. Blood gas analysis showed a normal pH with bicarbonate of 25 mmol/L He had medullary nephrocalcinosis on abdominal imaging and significant LVH on 2D echocardiography. The 18-year-old sister has serum creatinine levels of 1.5 mg/dL, with serum potassium levels of 3.2 meq/L with medullary nephrocalcinosis. Given the autosomal recessive inheritance pattern and the clinical picture of hypertension, hypokalemia and nephrocalcinosis, a provisional diagnosis of apparent mineralocorticoid excess (AME) was made.
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