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Renal manifestations in children with neurofibromatosis type 1

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Abstract

Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous syndrome affecting various parts of the body, including the renovascular and urinary systems. We evaluated the renovascular, urinary, glomerular, and tubular functions of children with NF1. We compared blood pressures, urinary findings, and renal glomerular and tubular functions in children with NF1 with those of a healthy age- and gender-matched control group. We evaluated 46 NF1 patients and 33 healthy controls. The mean ages of the NF1 group (female/male: 20/26) and the control group (female/male: 15/18) were 10.1 ± 4.6 and 10.6 ± 4.3 years respectively. Six NF1 patients were hypertensive. The mean blood pressures of the NF1 group were significantly higher than those of the control group. Renal artery stenosis was detected in one NF1 patient. Urinary tract anomalies were evident in 21.7% of NF1 but only 9% of control subjects. The mean estimated glomerular filtration rate (eGFR) of the NF1 group was significantly lower than that of the control group. Six NF1 patients evidenced eGFRs < 90 mL/min. In the NF1 group, tubular phosphorus reabsorption was significantly lower and uric acid excretion significantly higher than in the control group.

Conclusion: Hypertension, urinary tract anomalies, and impaired renal function were more common in NF1 patients than healthy controls. Regular blood pressure measurements and evaluation of urinary tract and kidney function are essential for NF1 patients.

What is Known:

• NF1 is most commonly associated with systemic hypertension due to renal artery vasculopathy and the development of a pheochromocytoma.

• Hydronephrosis and bladder involvement have been documented in NF1.

What is New:

• Renal glomerular and tubular functions may be affected in NF1.

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Data availability

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Abbreviations

CT:

Computerized tomography

DMSA:

Dimercaptosuccinic acid

eGFR:

Estimated glomerular filtration rate

FeK:

Fractional excretion of potassium

FeNa:

Fractional excretion of sodium

FeMg:

Fractional excretion of magnesium

FeUA:

Fractional excretion of uric acid

NF1:

Neurofibromatosis type 1

MR:

Magnetic resonance

SD:

Standard deviation

TRP:

Tubular reabsorption of phosphorus

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Kayseri City Hospital, Kayseri, Turkey

    Binnaz Celik

  2. Department of Pediatric Nephrology, Kayseri City Hospital, Kayseri, Turkey

    Ozlem Yuksel Aksoy & Funda Bastug

  3. Faculty of Medicine, Department of Pediatric Neurology, Firat University, Elazig, Turkey

    Hatice Gamze Poyrazoglu

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  1. Binnaz Celik
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  2. Ozlem Yuksel Aksoy
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  3. Funda Bastug
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  4. Hatice Gamze Poyrazoglu
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Contributions

OYA, BÇ, and FB were the major contributors in writing the manuscript. BÇ, FB, and HGP were involved in the collection of the data and the clinical follow-up of the patients. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Ozlem Yuksel Aksoy.

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The approval of the Local Ethical Committee was obtained (Kayseri City Education and Research Hospital).

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Informed consent was obtained from all parents of the children.

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The authors declare no competing interests.

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Communicated by Gregorio Paolo Milani

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Celik, B., Aksoy, O.Y., Bastug, F. et al. Renal manifestations in children with neurofibromatosis type 1. Eur J Pediatr 180, 3477–3482 (2021). https://doi.org/10.1007/s00431-021-04144-6

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  • DOI: https://doi.org/10.1007/s00431-021-04144-6

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