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Journal of Nephrology

, Volume 30, Issue 3, pp 455–460 | Cite as

Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance

  • Harald Seeger
  • Peter Salfeld
  • Rüdiger Eisel
  • Carsten A. Wagner
  • Nilufar Mohebbi
Case Report

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.

Keywords

AE1 mutation B1 mutation Metabolic acidosis Hypokalemia Hyperemesis gravidarum 

Notes

Acknowledgements

We thank our patients and appreciate the help of all family members who participated in this study. Particularly, we thank Dr. Rosa Vargas-Poussou for performing the genetic analysis and Dr. Giuseppina Spartà who initially diagnosed index patient 3 at the University Children’s Hospital in Zurich. The study was in part supported by the 7th EU Frame work project Eurenomics (to C.A. Wagner).

Compliance with ethical standards

Conflict of interest

All authors have nothing to declare.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Written informed consent was obtained from all patients for publication.

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Copyright information

© Italian Society of Nephrology 2016

Authors and Affiliations

  1. 1.Division of NephrologyUniversity Hospital ZurichZurichSwitzerland
  2. 2.Kantonsspital MünsterlingenChildren’s HospitalMünsterlingenSwitzerland
  3. 3.Kantonsspital FrauenfeldFrauenfeldSwitzerland
  4. 4.Institute of PhysiologyUniversity of ZurichZurichSwitzerland

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