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

Midori Awazu1, Mie Arai2, Shoko Ohashi3

  • 1Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Case Reports in Nephrology and Dialysis
|February 17, 2017
PubMed

Insights

Extremely low birth weight infants can experience generalized proximal tubular dysfunction, a condition affecting kidney function. This dysfunction, including glucosuria and aminoaciduria, may persist long-term, highlighting potential renal health issues in preterm infants.

Area of Science:

  • Neonatology
  • Pediatric Nephrology
  • Perinatal Medicine

Background:

  • Extremely low birth weight (ELBW) and preterm birth are associated with various neonatal complications.
  • Renal function in ELBW infants requires careful monitoring due to potential long-term consequences.
  • Generalized proximal tubular dysfunction is a recognized, though less common, complication in this population.

Observation:

  • Two ELBW infants (gestational ages 24 and 25 weeks) presented with generalized proximal tubular dysfunction.
  • Observed dysfunctions included glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria, panaminoaciduria, and hypercalciuria.
  • Renal calcification was noted, but renal tubular acidosis was absent. Dent's disease mutation analysis was negative in patient 1.

Findings:

  • Tubular dysfunction persisted in both infants even after resolution of rickets of prematurity.
  • Patient 1 showed persistent low molecular weight proteinuria, enzymuria, panaminoaciduria, hypercalciuria, and renal calcification at 8 years of age.
  • Patient 2 experienced resolution of most tubular dysfunction by age 5, except for beta-2 microglobulinuria, but also developed signs of glomerular damage.

Implications:

  • Generalized proximal tubular dysfunction is a significant finding in ELBW infants, distinct from reduced nephron number and focal segmental glomerulosclerosis.
  • Persistent tubular dysfunction in ELBW infants can have long-term renal health implications.
  • This study underscores the need for comprehensive renal monitoring in extremely preterm and ELBW neonates.

Keywords:
Fanconi syndromeLow birth weightPreterm infantsProximal tubule

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