Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase

  • Katsusuke Yamamoto
  • Yasuhiro Hasegawa
  • Yasuhisa Ohata
  • Kenichi Satomura
  • Yoshimi Mizoguchi
  • Tsunesuke Shimotsuji
  • Takehisa YamamotoEmail author
Case Report


The oculocerebrorenal disorder of Lowe syndrome is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 (OCRL), characterized by the triad of congenital cataracts, severe intellectual impairment, and renal tubular dysfunction. Manifestations of phenotype in female carriers and patients are extremely rare. We present a female case with congenital cataracts, severe intellectual impairment, sensorineural hearing loss, and renal tubular dysfunction as Lowe syndrome. A 9-year-old Japanese girl visited our hospital due to prolonged proteinuria. Her renal biopsy revealed diffuse mesangium proliferation, sclerosis and dilatation of renal tubules, and mild IgA deposition in the mesangial region. Furthermore, she had congenital cataracts, severe intellectual impairment, and sensorineural hearing loss. Genetic screening did not identify mutations of the ORCL gene encoding inositol polyphosphate 5-phosphatase (IPP-5P) (46 XX, female). However, we found the reduction of enzyme activity of IPP-5P to 50% of the normal value. Furthermore, her renal function had deteriorated to renal failure within a decade. Finally, she received peritoneal dialysis and renal transplantation. We present the oculocerebrorenal phenotype of Lowe syndrome in a female patient with reduced activity of IPP-5P without OCRL gene mutation.


Oculocerebrorenal Lowe syndrome OCRL gene Inositol polyphosphate 5-phosphatase Renal tubular dysfunction 



We are grateful to the past Dr. Youichi Mizusawa at Tokyo Medical and Dental University for enzyme assays and the past Dr. Takashi Sekine at The University of Tokyo for genetic investigations. We also thank Dr. Makoto Ishida at Ishida Clinic and Dr. Hidehito Kondou at Japanese Red Cross Kyoto Daiichi Hospital for useful discussions and Dr. Mai Ihashi, other pediatricians, and many medical staff working in Minoh City Hospital for their clinical co-operation.


This research was not supported by any funds.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from patient and her parent included in the study.


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Copyright information

© Japanese Society of Nephrology 2019

Authors and Affiliations

  • Katsusuke Yamamoto
    • 1
    • 2
  • Yasuhiro Hasegawa
    • 1
  • Yasuhisa Ohata
    • 1
    • 3
  • Kenichi Satomura
    • 2
    • 4
  • Yoshimi Mizoguchi
    • 1
  • Tsunesuke Shimotsuji
    • 1
  • Takehisa Yamamoto
    • 1
    Email author
  1. 1.Department of PediatricsMinoh City HospitalMinoh CityJapan
  2. 2.Department of Pediatric Nephrology and MetabolismOsaka Women’s and Children’s HospitalIzumi CityJapan
  3. 3.Department of PediatricsOsaka University Graduate School of MedicineSuita CityJapan
  4. 4.Division of Internal MedicineMeisei Daini HospitalOsaka CityJapan

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