Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension
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CLINICAL BRIEF
Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension Menka Yadav 1 & Aditi Sinha 1 & Pankaj Hari 1 & Arvind Bagga 1 Received: 23 April 2020 / Accepted: 25 September 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Monogenic defects in tubular sodium handling contribute a small proportion to hypertension in childhood. Presentation varies from severe hypertension manifesting at birth to asymptomatic hypertension and hypokalemic metabolic alkalosis detected incidentally in adulthood. A 12-y-old girl presenting with polyuria, polydipsia, severe hypertension and seizures, was found to have hypokalemia, renal medullary cysts and nephrocalcinosis. Clinical exome revealed a homozygous variation of unknown significance in exon 5 of the HSD11B2 gene, indicating the diagnosis of apparent mineralocorticoid excess. Therapy with spironolactone was associated with resolution of hypokalemia and normal blood pressure during two-year follow up. Keywords Hypokalemia . Polyuria . Apparent mineralocorticoid excess . Spironolactone
Introduction Monogenic forms of hypertension are rare diseases characterized by increased sodium reabsorption in the distal nephron, resulting in volume expansion and hypertension. The condition is suspected in patients presenting with early onset sporadic or familial hypertension, hypokalemic metabolic alkalosis and absence of renal parenchymal, renovascular and endocrine disease [1]. Clinical features of apparent mineralocorticoid excess (AME) include severe hypertension with complications presenting in early childhood and metabolic alkalosis [2]. The authors report an adolescent with AME and clinical features mimicking a renal tubular disorder.
Case Report A 12-y-old girl presented with poor weight gain, polyuria, polydipsia and preference for salty foods for the past 4 y. One month earlier she was admitted elsewhere with floppiness and right-partial seizure following acute diarrhea. The child
* Arvind Bagga [email protected] 1
Division of Nephrology, Department of Pediatrics and ICMR Center for Advanced Research in Nephrology, All India Institute of Medical Sciences, 110029 New Delhi, India
was born at term weighing 2.1 kg. There was no consanguinity or family history of early onset or severe hypertension. At admission, hypertension (140/90 mm Hg) was noted. Blood level of creatinine was 0.6 mg/dL and potassium 1.4– 1.9 mEq/L. At presentation to authors’ center, the blood pressure was 142/88 mm Hg and all peripheral pulses were palpable. Ambulatory blood pressure monitoring (ABPM; performed later) confirmed severe hypertension, with 60% systolic load, 52% diastolic load and lack of dipping. Weight and height were at − 2.1 and − 2.2 standard deviation scores (SDS), respectively; sexual maturity rating indicated prepubertal status. Polyuria (>3 L/d) was confirmed. Blood investigations showed sodium of 140–144 mEq/L, potassium 3.2–3.7 mEq/L, urea 14–19 mg/ dL, creatinine 0.4–0.5 mg/dL, uric acid 3.6 mg/dL, albumin 4.3 g/dL, calcium 9.1
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