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

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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.

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References

  1. Wagner CA, Devuyst O, Bourgeois S, Mohebbi N (2009) Regulated acid-base transport in the collecting duct. Pflugers Archiv 458(1):137–156

    Article  CAS  PubMed  Google Scholar 

  2. Sengul E, Bunul F, Yazici A et al (2013) An unusual initial presentation of Sjogren’s syndrome: severe hypokalemic paralysis secondary to distal renal tubular acidosis. Eurasian J Med 45(3):218–221

    Article  PubMed  PubMed Central  Google Scholar 

  3. van den Wildenberg MJ, Hoorn EJ, Mohebbi N et al (2015) Distal renal tubular acidosis with multiorgan autoimmunity: a case report. Am J Kidney Dis 65(4):607–610

    Article  PubMed  Google Scholar 

  4. Cabiddu G, Castellino S, Gernone G et al (2016) A best practice position statement on pregnancy in chronic kidney disease: the Italian Study Group on Kidney and Pregnancy. J Nephrol 29(3):277–303

    Article  PubMed  PubMed Central  Google Scholar 

  5. Alsuwaida A, Mousa D, Al-Harbi A, Alghonaim M, Ghareeb S, Alrukhaimi MN (2011) Impact of early chronic kidney disease on maternal and fetal outcomes of pregnancy. J Mater Fetal Neonatal Med 24(12):1432–1436

    Article  CAS  Google Scholar 

  6. Piccoli GB, Cabiddu G, Attini R et al (2015) Risk of adverse pregnancy outcomes in women with CKD. J Am Soc Nephrol 26(8):2011–2022

    Article  PubMed  PubMed Central  Google Scholar 

  7. Firmin CJ, Kruger TF, Davids R (2007) Proximal renal tubular acidosis in pregnancy. A case report and literature review. Gynecol Obstet Invest 63(1):39–44

    Article  CAS  PubMed  Google Scholar 

  8. Hardardottir H, Lahiri T, Egan JF (1997) Renal tubular acidosis in pregnancy: case report and literature review. J Mater Fetal Med 6(1):16–20

    Article  CAS  Google Scholar 

  9. Srisuttayasathien M (2015) Hypokalemia-induced rhabdomyolysis as a result of distal renal tubular acidosis in a pregnant woman: a case report and literature review. Case Rep Obstetr Gynecol 2015:947617

    Google Scholar 

  10. Rowe TF, Magee K, Cunningham FG (1999) Pregnancy and renal tubular acidosis. Am J Perinatol 16(4):189–191

    Article  CAS  PubMed  Google Scholar 

  11. Mohebbi N, Vargas-Poussou R, Hegemann SC et al (2013) Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clin Genet 83(3):274–278

    Article  CAS  PubMed  Google Scholar 

  12. Piccoli GB, Attini R, De Pascale A et al (2012) Protean presentation and multiple challenges of nephrocalcinosis in pregnancy (six pregnancies in four patients). Nephrol Dial Transplant 27(3):1131–1138

    Article  CAS  PubMed  Google Scholar 

  13. Khositseth S, Bruce LJ, Walsh SB et al (2012) Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. QJM 105(9):861–877

    Article  CAS  PubMed  Google Scholar 

  14. Alper SL (2010) Familial renal tubular acidosis. J Nephrol 23(Suppl 16):S57–S76

    PubMed  Google Scholar 

  15. Dhayat NA, Schaller A, Albano G et al (2016) The vacuolar H+-ATPase B1 subunit polymorphism p.E161K associates with impaired urinary acidification in recurrent stone formers. J Am Soc Nephrol 27(5):1544–1554

    Article  CAS  PubMed  Google Scholar 

  16. Vargas-Poussou R, Houillier P, Le Pottier N et al (2006) Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol 17(5):1437–1443

    Article  CAS  PubMed  Google Scholar 

  17. Stover EH, Borthwick KJ, Bavalia C et al (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 39(11):796–803

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Kidney Disease (2013) Improving global outcomes (KDIGO) CKD work group. KDIGO 2012 clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Inter Suppl 3:1–150

    Article  Google Scholar 

  19. Davison JM, Dunlop W (1980) Renal hemodynamics and tubular function normal human pregnancy. Kidney Int 18(2):152–161

    Article  CAS  PubMed  Google Scholar 

  20. Blechner JN (1993) Maternal-fetal acid-base physiology. Clin Obstetr Gynecol 36(1):3–12

    Article  CAS  Google Scholar 

  21. Omo-Aghoja L (2014) Maternal and fetal Acid-base chemistry: a major determinant of perinatal outcome. Ann Med Health Sci Res 4(1):8–17

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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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).

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Authors and Affiliations

  1. Division of Nephrology, University Hospital Zurich, Rämistr. 100, 8091, Zurich, Switzerland

    Harald Seeger & Nilufar Mohebbi

  2. Kantonsspital Münsterlingen, Children’s Hospital, Münsterlingen, Switzerland

    Peter Salfeld

  3. Kantonsspital Frauenfeld, Frauenfeld, Switzerland

    Rüdiger Eisel

  4. Institute of Physiology, University of Zurich, Zurich, Switzerland

    Carsten A. Wagner

Authors
  1. Harald Seeger
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  2. Peter Salfeld
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  3. Rüdiger Eisel
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  4. Carsten A. Wagner
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  5. Nilufar Mohebbi
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Correspondence to Nilufar Mohebbi.

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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.

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Written informed consent was obtained from all patients for publication.

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Seeger, H., Salfeld, P., Eisel, R. et al. Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance. J Nephrol 30, 455–460 (2017). https://doi.org/10.1007/s40620-016-0370-x

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  • DOI: https://doi.org/10.1007/s40620-016-0370-x

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