title: Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.
abstract: Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer from chronic kidney disease (CKD) with an increased risk for adverse pregnancy-related outcomes. Typical complications of dRTA include severe hypokalemia leading to cardiac arrhythmias and paralysis, nephrolithiasis and nephrocalcinosis. Several physiologic changes occur in normal pregnancy including alterations in acid-base and electrolyte homeostasis as well as in GFR. However, data on pregnancy in women with inherited dRTA are scarce. We report the course of pregnancy in three women with hereditary dRTA. Complications observed were severe metabolic acidosis, profound hypokalemia aggravated by hyperemesis gravidarum, recurrent urinary tract infection (UTI) and ureteric obstruction leading to renal failure. However, the outcome of all five pregnancies (1 pregnancy each for mothers n. 1 and 2; 3 pregnancies for mother n. 3) was excellent due to timely interventions. Our findings highlight the importance of close nephrologic monitoring of women with inherited dRTA during pregnancy. In addition to routine assessment of creatinine and proteinuria, caregivers should especially focus on acid-base status, plasma potassium and urinary tract infections. Patients should be screened for renal obstruction in the case of typical symptoms, UTI or renal failure. Furthermore, genetic identification of the underlying mutation may (a) support early nephrologic referral during pregnancy and a better management of the affected woman, and (b) help to avoid delayed diagnosis and reduce complications in affected newborns.
authors.affiliation: Division of Nephrology, University Hospital Zurich, Rämistr. 100, 8091, Zurich, Switzerland.
authors.forename: Harald
authors.initials: H
authors.lastname: Seeger
authors.affiliation: Kantonsspital Münsterlingen, Children's Hospital, Münsterlingen, Switzerland.
authors.forename: Peter
authors.initials: P
authors.lastname: Salfeld
authors.affiliation: Kantonsspital Frauenfeld, Frauenfeld, Switzerland.
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Eisel
authors.affiliation: Institute of Physiology, University of Zurich, Zurich, Switzerland.
authors.forename: Carsten A
authors.initials: CA
authors.lastname: Wagner
authors.affiliation: Division of Nephrology, University Hospital Zurich, Rämistr. 100, 8091, Zurich, Switzerland. nilufar.mohebbi@usz.ch.
authors.forename: Nilufar
authors.identifier: http://orcid.org/0000-0002-8229-9733
authors.initials: N
authors.lastname: Mohebbi
mesh_terms: D000136:Acid-Base Equilibrium; D000138:Acidosis / Q000209:etiology / Q000503:physiopathology; D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D000328:Adult; D005260:Female; D006801:Humans; D006939:Hyperemesis Gravidarum / Q000209:etiology / Q000503:physiopathology; D007008:Hypokalemia / Q000209:etiology / Q000503:physiopathology; D007668:Kidney / Q000503:physiopathology*; D050498:Live Birth; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy; D011251:Pregnancy Complications, Infectious / Q000209:etiology / Q000503:physiopathology; D012008:Recurrence; D051437:Renal Insufficiency / Q000209:etiology / Q000503:physiopathology; D012720:Severity of Illness Index; D016896:Treatment Outcome; D014517:Ureteral Obstruction / Q000209:etiology / Q000503:physiopathology; D014552:Urinary Tract Infections / Q000209:etiology / Q000503:physiopathology; D055815:Young Adult
keywords: AE1 mutation; B1 mutation; Hyperemesis gravidarum; Hypokalemia; Metabolic acidosis