Tubular Dysfunction Mimicking Dent's Disease in 2 Infants Born with Extremely Low Birth Weight

Midori Awazu, Mie Arai, Shoko Ohashi, Hirotaka Takahashi, Takashi Sekine, Kazushige Ikeda

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative. Although both patients had rickets of prematurity, tubular dysfunction persisted after its resolution. Patient 2, who had severe chronic lung disease, also had elevated serum creatinine, proteinuria, and hypertension, suggesting glomerular damage. In patient 1, low molecular weight proteinuria, enzymuria, panaminoaciduria, hypercalciuria, and renal calcification were still present at the age of 8 years. In patient 2, tubular dysfunction resolved except for β2 microglobulinuria at the age of 5 years. While a reduced nephron number resulting in focal segmental glomerulosclerosis is well-known, generalized proximal tubular dysfunction can also occur in infants born preterm and/or with extremely low birth weight.

Original languageEnglish
Pages (from-to)13-17
Number of pages5
JournalCase Reports in Nephrology and Dialysis
Volume7
Issue number1
DOIs
Publication statusPublished - 2017 Jan 6

Keywords

  • Fanconi syndrome
  • Low birth weight
  • Preterm infants
  • Proximal tubule

ASJC Scopus subject areas

  • Nephrology

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