Nephropathy Advancing to End-Stage Renal Disease: A Novel Complication of Lysinuric Protein Intolerance

Tanner, Laura M.; Näntö-Salonen, Kirsti; Niinikoski, Harri; Jahnukainen, Timo; Keskinen, Päivi; Saha, Heikki; Kananen, Kristiina; Helanterä, Antero; Metso, Martti; Linnanvuo, Marjatta; Huoponen, Kirsi; Simell, Olli

doi:10.1016/j.jpeds.2007.01.043

« Previous Next »The Journal of Pediatrics
Volume 150, Issue 6 , Pages 631-634.e1, June 2007

Nephropathy Advancing to End-Stage Renal Disease: A Novel Complication of Lysinuric Protein Intolerance

Laura M. Tanner, MD
- Department of Pediatrics, University of Turku, Turku, Finland
- Reprint requests: Laura M. Tanner, MD, Department of Pediatrics, University of Turku, Kiinamyllynkatu 4-8, 20520 Turku, Finland.
Kirsti Näntö-Salonen, MD, PhD
- Department of Pediatrics, University of Turku, Turku, Finland
Harri Niinikoski, MD, PhD
- Department of Pediatrics, University of Turku, Turku, Finland
Timo Jahnukainen, MD, PhD
- Department of Pediatrics, University of Turku, Turku, Finland
Päivi Keskinen, MD, PhD
- Department of Pediatrics, University Hospital of Tampere, and The Paediatric Research Centre, University of Tampere, Tampere, Finland
Heikki Saha, MD, PhD
- Department of Internal Medicine, University Hospital of Tampere, Tampere, Finland
Kristiina Kananen, MD, PhD
- Department of Internal Medicine, Kainuu Central Hospital, Kajaani, Finland
Antero Helanterä, MD
- Department of Internal Medicine, Päijät-Häme Central Hospital, Lahti, Finland
Martti Metso, MD
- Department of Internal Medicine, Kanta-Häme Central Hospital, Hämeenlinna, Finland
Marjatta Linnanvuo, MD
- Department of Internal Medicine, Oulu University Hospital, Oulu, Finland
Kirsi Huoponen, PhD
- Department of Medical Genetics, University of Turku, Turku, Finland.
Olli Simell, MD, PhD
- Department of Pediatrics, University of Turku, Turku, Finland

Received 5 October 2006; received in revised form 28 November 2006; accepted 31 January 2007.

Objective

To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (LPI) and to describe the course and outcome of end-stage renal disease in 4 patients.

Study design

The clinical information in a cohort of 39 Finnish patients with LPI was analyzed retrospectively.

Results

Proteinuria was observed in 74% of the patients and hematuria was observed in 38% of the patients during follow-up. Elevated blood pressure was diagnosed in 36% of the patients. Mean serum creatinine concentration increased in 38% of the patients, and cystatin C concentration increased in 59% of the patients. Four patients required dialysis, and severe anemia with poor response to erythropoietin and iron supplementation also developed in these patients.

Conclusions

Our findings suggest that renal function of patients with LPI needs to be carefully monitored, and hypertension and hyperlipidemia should be treated effectively. Special attention also should be paid to the prevention of osteoporosis and carnitine deficiency in the patients with end-stage renal disease associated with LPI. The primary disease does not prohibit treatment by dialysis and renal transplantation.

Abbreviations: ACE, Angiotensin-converting enzyme, ESRD, End-stage renal disease, LPI, Lysinuric protein intolerance