Core Concepts in the Disorders of Fluid, Electrolytes and Acid-Base Balance

387 Pages·2013·6.276 MB·English

by  Jeff M. Sands M.D., David B. Mount M.D. (auth.), David B. Mount, Mohamed H. Sayegh, Ajay K. Singh (eds.)

Core Concepts in the Disorders
of Fluid, Electrolytes
and Acid-Base Balance

David B. Mount (cid:129) Mohamed H. Sayegh
Ajay K. Singh
Editors
Core Concepts
in the Disorders
of Fluid, Electrolytes
and Acid-Base Balance
Editors
David B. Mount, MD Mohamed H. Sayegh, MD
Renal Division Renal Division
VA Boston Healthcare System Brigham and Women’s Hospital
Brigham and Women’s Hospital Harvard Medical School
Harvard Medical School Boston, MA, USA
Boston, MA, USA
Ajay K. Singh, MB, FRCP (UK)
Renal Division
Brigham and Women’s Hospital
Harvard Medical School
Boston, MA, USA
ISBN 978-1-4614-3769-7 ISBN 978-1-4614-3770-3 (eBook)
DOI 10.1007/978-1-4614-3770-3
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Library of Congress Control Number: 2012941302
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To my wife and children; Erika, Julia, and Nicholas
–DBM

Preface
Fluid, electrolyte, and acid–base disorders are central to the day-to-day prac-
tice of almost all areas of patient-centered medicine, both medical and surgi-
cal. Despite the steep learning curve for trainees, the underlying
pathophysiology and/or management is often viewed as “settled,” with the
perception that there is little in this fi eld that is new. However, there have
been signi fi cant recent developments in all aspects of these important disor-
ders. This book encompasses these new fi ndings in comprehensive reviews
of both pathophysiology and clinical management, meant for both the neph-
rologist and the nonspecialist physician or medical trainee.
Virtually every subject in this textbook has witnessed major developments
in the last decade. New pathophysiology includes the molecular identi fi cation
of “pendrin” (SLC26A4) as the apical Cl− /HCO − exchanger in b [beta]-inter-
3
calated cells [1, 2]; this transporter functions in distal chloride and bicarbon-
ate transport, with evolving roles in the pathophysiology of hypertension and
metabolic alkalosis. A host of previously uncharacterized genetic tubular dis-
orders have recently yielded to molecular genetics, with major impact of this
gene identi fi cation on the understanding of renal physiology and pathophysi-
ology. In particular, the identi fi cation in 2001 [3] of causative mutations in
the WNK1 (With No K/Lysine) and WNK4 kinases in familial hypertension
with hyperkalemia (Gordon’s syndrome) led to a still-evolving cascade of
insight into the role of these and associated signaling proteins in the coordi-
nation of aldosterone-dependent and aldosterone-independent regulation of
distal potassium, sodium, and chloride transport [4]. Characterization of mul-
tiple genes for familial hypomagnesemia led to the identi fi cation of novel
magnesium transport pathways [5] and to the identi fi cation of cell-associated
epidermal growth factor as a major paracrine regulator of distal tubular mag-
nesium transport [6]. Finally, characterization of FGF23 ( fi broblast growth
factor-23) as the disease gene for autosomal dominant hypophosphatemic
rickets [7] uncovered a major new regulatory hormone in calcium and phos-
phate balance [8, 9].
At the clinical level, the spectrum of the acquired causes of electrolyte
disorders continues to expand. Examples include hypokalemia due to the acti-
vation of colonic potassium secretion in Ogilvie’s syndrome [10], and hypo-
magnesemia, with or without associated hypokalemia, after treatment with the
EGF antagonist cetuximab [6, 11, 12]. The management of electrolyte disor-
ders has also evolved considerably in the last decade. Nowhere is this more
vii
viii Preface
evident than in hyponatremia, with the recent availability of vasopressin
antagonists [13, 14] and the increasing familiarity with relowering of serum
sodium concentration in patients who have corrected too quickly [15].
The integrated analysis and management of fl uid, electrolyte, and acid–
base disorders can be a daunting challenge, especially for trainees. With this
in mind, the last chapter includes ten real-life clinical vignettes that provide a
step-by-step analysis of the pathophysiology, differential diagnosis, and man-
agement of selected clinical problems.
Boston, MA, USA David B. Mount
Mohamed H. Sayegh
Ajay K. Singh
References
1. Royaux IE, Wall SM, Karniski LP, et al. Pendrin, encoded by the Pendred syndrome
gene, resides in the apical region of renal intercalated cells and mediates bicarbonate
secretion. Proc Natl Acad Sci U S A. 2001;98:4221–6.
2. Verlander JW, Hassell KA, Royaux IE, et al. Deoxycorticosterone upregulates PDS
(Slc26a4) in mouse kidney: role of pendrin in mineralocorticoid-induced hypertension.
Hypertension 2003;42:356–62.
3. Wilson FH, Disse-Nicodeme S, Choate KA, et al. Human hypertension caused by
mutations in WNK kinases. Science 2001;293:1107–12.
4. Welling PA, Chang YP, Delpire E, Wade JB. Multigene kinase network, kidney trans-
port, and salt in essential hypertension. Kidney Int. 2010;77:1063–9.
5. Schlingmann KP, Weber S, Peters M, et al. Hypomagnesemia with secondary hypocal-
cemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat
Genet. 2002;31:166–70.
6. Groenestege WM, Thebault S, van der Wijst J, et al. Impaired basolateral sorting of
pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest. 2007;
117:2260–7.
7. Consortium A. Autosomal dominant hypophosphataemic rickets is associated with
mutations in FGF23. The ADHR Consortium. Nat Genet. 2000;26:345–8.
8. Wolf M. Forging forward with 10 burning questions on FGF23 in kidney disease. J Am
Soc Nephrol. 2010;21:1427–35.
9. Alon US. Clinical practice. Fibroblast growth factor (FGF)23: a new hormone. Eur J
Pediatr. 2011;170:545–54.
10. Blondon H, Bechade D, Desrame J, Algayres JP. Secretory diarrhoea with high faecal
potassium concentrations: a new mechanism of diarrhoea associated with colonic
pseudo-obstruction? Report of fi ve patients. Gastroenterol Clin Biol. 2008;32:401–4.
1 1. Cao Y, Liao C, Tan A, Liu L, Gao F. Meta-analysis of incidence and risk of hypomag-
nesemia with cetuximab for advanced cancer. Chemotherapy 2010;56:459–65.
12. Cao Y, Liu L, Liao C, Tan A, Gao F. Meta-analysis of incidence and risk of hypokalemia
with cetuximab-based therapy for advanced cancer. Cancer Chemother Pharmacol.
2010;66:37–42.
13. Schrier RW, Gross P, Gheorghiade M, et al. Tolvaptan, a selective oral vasopressin
V2-receptor antagonist, for hyponatremia. N Engl J Med. 2006;355:2099–112.
14. Zeltser D, Rosansky S, van Rensburg H, Verbalis JG, Smith N. Assessment of the
ef fi cacy and safety of intravenous conivaptan in euvolemic and hypervolemic hypona-
tremia. Am J Nephrol. 2007;27:447–57.
15. Perianayagam A, Sterns RH, Silver SM, et al. DDAVP is effective in preventing and
reversing inadvertent overcorrection of hyponatremia. Clin J Am Soc Nephrol. 2008;
3:331–6.
Contents
1 The Physiology of Water Homeostasis ....................................... 1
Jeff M. Sands, David B. Mount, and Harold E. Layton
2 Disorders of Water Metabolism .................................................. 29
Joshua M. Thurman and Tomas Berl
3 Potassium and the Dyskalemias .................................................. 49
Alan Segal
4 Disorders of Calcium, Phosphate, and Magnesium
Metabolism ................................................................................... 103
Ali Hariri, David B. Mount, and Ashghar Rastegar
5 Management of Fluid and Electrolyte Abnormalities
in Children .................................................................................... 147
John T. Herrin
6 Diuretic Therapy .......................................................................... 171
Arohan R. Subramanya and David H. Ellison
7 Renal Acidification Mechanisms ................................................. 203
I. David Weiner, Jill W. Verlander, and Charles S. Wingo
8 Core Concepts and Treatment of Metabolic Acidosis ............... 235
Michael R. Wiederkehr and Orson W. Moe
9 Metabolic Alkalosis ...................................................................... 275
F. John Gennari
10 Respiratory Acid–Base Disorders ............................................... 297
Biff F. Palmer
11 Mixed Acid–Base Disorders ........................................................ 307
Jeffrey A. Kraut and Ira Kurtz
12 Case Studies in Electrolyte and Acid–Base Disorders .............. 327
David B. Mount
Index ...................................................................................................... 363
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