Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting Due to Elevated ANP/BNP Levels, Res
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CLINICAL BRIEF
Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting Due to Elevated ANP/BNP Levels, Rescued by Fludrocortisone Treatment Kleanthis Kleanthous 1,2 & Eirini Maratou 3 & Dora Spyropoulou 2 & Eleni Dermitzaki 1 & Anastasios Papadimitriou 2 & George Zoupanos 4 & Paraskevi Moutsatsou 3 & George Mastorakos 5 & Fumihiko Urano 6 & Dimitrios T. Papadimitriou 1,2 Received: 21 April 2020 / Accepted: 7 October 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Initiation of desmopressin acetate (DDAVP) for untreated diabetes insipidus (DI) in Wolfram syndrome (WS) causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuretic Peptide (ANP) and/or Brain Natriuretic Peptide (BNP), which in turn blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW). Two sisters, a 19-y-old girl (A) and a 7-y-old girl (B) with WS, presented with severe polyuria-polydipsia due to never treated DI. Both had neurogenic bladder and “B” had severe hydronephrosis secondary to untreated grade III bilateral vesicoureteral reflux. They initiated therapy with oral melt DDAVP which resulted in RSW. ANP was found ×50 and BNP ×2–4 fold elevated. Fludrocortisone 100–200 × 2 μg/d controlled natriuresis and restored electrolytes to normal within 48 h. Fludrocortisone treatment rescues otherwise potentially life-threatening hyponatremia due to RSW and the secondary mineralocorticoid deficiency driven by elevated ANP and/or BNP, caused by sudden volume expansion following DDAVP initiation. Keywords ANP . BNP . Renal salt wasting . Fludrocortisone . Diabetes insipidus . Wolfram syndrome Note: This paper was presented at the 57th Annual Meeting of the European Society for Pediatric Endocrinology and the abstract was published in Horm Res Paediatr 2018;90:1–680 (https://doi.org/10. 1159/000492307) * Dimitrios T. Papadimitriou [email protected] 1
Department of Pediatric Endocrinology & Diabetes, Athens Medical Center, Athens, Greece
2
Department of Pediatric Endocrinology & Diabetes, 3rd Department of Pediatrics, Attikon University Hospital, Athens, Greece
3
Department of Clinical Biochemistry, Medical School, National and Kapodistrian University of Athens, Athens, Greece
4
Department of Pediatric Urology, Athens Medical Center, Maroussi, Greece
5
Endocrine Unit, 2nd Department of Obstetrics & Gynecology, Aretaieion University Hospital, Athens Medical School, Athens, Greece
6
Washington University School of Medicine, St. Louis, MO, USA
Introduction Wolfram syndrome (WS) is a rare endoplasmic reticulum (ER) disorder, needing genetic testing to confirm [1] the two causative genes WFS1 [2] and WFS2, characterized by insulin-dependent diabetes, diabetes insipidus (DI), optic nerve atrophy, deafness and progressive neurodegeneration [1, 2] with poor prognosis as most patients perish by their 30s. WFS1 negatively regulates ER stress signaling in human cells [3]. While nove
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