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Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?

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Abstract

Background

Hypothyroidism with impairment of renal function and raised creatinine phosphokinase (CPK) is described in adults and children with acquired hypothyroidism, but not in congenital hypothyroidism.

Case presentation

A male infant born at term weighing 3390 g was seen aged 2 months with prolonged jaundice. Examination showed somnolence, umbilical hernia, enlarged fontanelles and lower limb edema; length 55 cm (−1.5 SD), weight 5.4 kg (−0.13 SD). Biochemistry showed fT4 < 1 pmol/L, TSH = 1044.36 μUI/mL, creatinine 77 μmol/L(normal <35 μmol/L), estimated glomerular filtration rate (GFR) 26 ml/min/1.73 m2, CPK 3952.5 IU/L (normal<400 IU/L). Ultrasound showed no thyroid tissue in the neck. In view of the renal impairment, peritoneal dialysis was initially contemplated but postponed and the child received levothyroxine 10 μg/kg/day. Two months later thyroid function tests, CPK and renal function had all normalized with creatinine 19 μmol/L and GFR 116 ml/min/1.73m2.

Discussion

Reversible renal impairment is attributable to severe congenital hypothyroidism causing decreased myocardial contractility and cardiac output and to a direct effect on the kidneys. Thyroid function should be checked in infants with renal impairment of unknown cause. Cautious fluid management is indicated in hypothyroid infants. Hypothyroidism may also be associated with elevated serum CPK levels but resolves with thyroxin therapy.

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Acknowledgements

This study couldn’t have been carried out without the parents being as interested as we were in understanding their child’s evolving situation. We thank them for their permission and willingness to report this case so as to be useful to other children.

The authors would also like to thank Dr. Malcolm Donaldson for his careful review, valuable assistance, helpful suggestions and enthusiastic support.

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Authors and Affiliations

  1. Faculté de Médecine de Tunis, Université de Tunis El Manar, 1007, Tunis, Tunisia

    Leïla Essaddam, Asma Ben Mansour, Nada Missaoui, Rahma Guedri, Nadia Mattoussi, Zohra Fitouri & Saayda Ben Becher

  2. Department of Pediatrics, Emergency and Outpatient Clinics (PUC), Children Hospital Béchir Hamza de Tunis, Bab Saadoun, Jebbari, 1007, Tunis, Tunisia

    Leïla Essaddam, Asma Ben Mansour, Nada Missaoui, Rahma Guedri, Nadia Mattoussi, Zohra Fitouri & Saayda Ben Becher

  3. Tunis, Tunisia

    Leïla Essaddam

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  1. Leïla Essaddam
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Corresponding author

Correspondence to Leïla Essaddam.

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Conflict of interest

All the authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in this study were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments.

Informed consent

Informed consent was obtained from the child’s parents.

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Established facts

• Hypothyroidism can impact renal function in adults and children

• There are few data about renal function in infants with congenital hypothyroidism

• There are no data concerning renal failure in infants with CH

Novel insights

• Renal failure can occur in infant with severe congenital hypothyroidism

• Thyroid hormone replacement restores renal function

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Cite this article

Essaddam, L., Ben Mansour, A., Missaoui, N. et al. Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?. J Diabetes Metab Disord 18, 733–738 (2019). https://doi.org/10.1007/s40200-019-00430-1

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  • DOI: https://doi.org/10.1007/s40200-019-00430-1

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