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Chronic kidney disease in adolescent and adult patients with phenylketonuria

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Objectives

A lifelong phenylalanine-restricted diet with supplementation of a phenylalanine-free amino acid formula is recommended in patients with phenylketonuria (PKU). The effect of a long-term PKU diet on renal function and blood pressure has not been investigated yet.

Design

We analyzed renal function in 67 patients with PKU, aged 15–43 years, by measuring glomerular filtration rate (GFR) and effective renal plasma flow by isotope clearance (51Cr-EDTA, 123J-Hippuran), estimated GFR, blood retention parameters, urinary protein and electrolyte excretion. Renal ultrasound and 24 h ambulatory blood pressure monitoring were performed additionally. Patients were divided into three groups according to their: 1) current diet (CD), i.e., daily protein intake: ICD <0.8 g/kg, IICD 0.8–1.04 g/kg, IIICD >1.04 g/kg; 2) life-long diet time (LDT), i.e., cumulative years of life in which daily protein intake exceeded dietary recommendations: ILDT <15 years, IILDT 15–19 years, IIILDT >19 years.

Results

GFR was decreased in 19 % of the patients. With increasing protein intake, GFR decreased significantly (ICD 111 ml/min; IICD 105 ml/min; IIICD 99 ml/min. ILDT 112 ml/min; IILDT 103 ml/min; IIILDT 99 ml/min). Proteinuria was detected in 31 %, microalbuminuria in 7 %, and hypercalciuria in 23 % of the patients. 23 % of the patients had arterial hypertension, and 41 % revealed a nocturnal non-dipping status.

Conclusions

In patients with PKU on a lifelong diet we could detect impaired renal function in 19 %, proteinuria in 31 %, and arterial hypertension in 23 %. Thus, chronic kidney disease may develop in PKU patients, and routine renal function tests should be performed during long-term follow-up.

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Abbreviations

AA:

Amino acids

ABPM:

Ambulatory blood pressure monitoring

BMI:

Body mass index

BP:

Blood pressure

CD:

Current diet

CKD:

Chronic kidney disease

eGFR:

Estimated glomerular filtration rate

ERPF:

Effective renal plasma flow

GFR:

Glomerular filtration rate

LDT:

Life-long diet time

PAH:

Phenylalanine hydroxylase

Phe:

Phenylalanine

PKU:

Phenylketonuria

RDA:

Recommended daily allowance

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Acknowledgement

We thank all patients and their parents for the participation and for their cooperation. We are grateful to Christine Gebauer and Gudrun Heide who calculated dietary protocols and dietary protein intake of all patients included in the study.

Conflict of interest

None.

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Authors and Affiliations

  1. Department of Pediatric Endocrinology, Gastroenterology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany

    Julia B. Hennermann & Sylvia Roloff

  2. Department of Pediatric Nephrology, Charité Universitätsmedizin Berlin, Berlin, Germany

    Jutta Gellermann, Ilka Vollmer & Uwe Querfeld

  3. Department of Neuropediatrics, Charite Universitätsmedizin Berlin, Berlin, Germany

    Elke Windt

  4. Department of Pediatric Molecular Medicine, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany

    Barbara Vetter

  5. Department of Hepatology and Gastroenterology, Charité Universitätsmedizin Berlin, Berlin, Germany

    Ursula Plöckinger & Eberhard Mönch

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  1. Julia B. Hennermann
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  2. Sylvia Roloff
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Corresponding author

Correspondence to Julia B. Hennermann.

Additional information

Communicated by: Eva Morava

Eberhard Mönch and Uwe Querfeld both authors contributed equally to the study.

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Hennermann, J.B., Roloff, S., Gellermann, J. et al. Chronic kidney disease in adolescent and adult patients with phenylketonuria. J Inherit Metab Dis 36, 747–756 (2013). https://doi.org/10.1007/s10545-012-9548-0

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  • DOI: https://doi.org/10.1007/s10545-012-9548-0

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