Consultation With the Specialist: Renal Tubular Acidosis

James C.M. Chan; Jon I. Scheinman; Karl S. Roth

doi:10.1542/pir.22-8-277

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James C.M. Chan, MD^*
Jon I. Scheinman, MD^†
Karl S. Roth, MD^*

^*From the Department of Pediatrics and the Department of Biochemistry Molecular Biophysics, Virginia Commonwealth University, Richmond, VA
^†Department of Pediatrics at the University of Kansas, Kansas City, KS.

Objectives After completing this article, readers should be able to:

Describe the important presenting characteristics of renal tubular acidosis (RTA).
Delineate the mechanisms of the growth failure commonly encountered in RTA.
Characterize the various types of primary RTA.
Describe diagnostic tests and treatment modalities available for RTA.
Delineate the conditions giving rise to secondary distal and proximal RTA.

Case Presentation

A 2-month-old Caucasian female presented for failure to thrive. She was born at 33 weeks’ gestation via primary cesarean section for pregnancy-induced hypertension to a 38-year-old G1P0 mother. Her birthweight was 1,430 g, making her small for gestational age. Apgar scores were 7 and 9 at 1 and 5 minutes, respectively. Newborn metabolic screen results were negative. At 3 weeks of age, with good oral intake of formula, alternating with breastfeeding, the infant was discharged from the hospital.

The infant’s paternal grandfather died at age 61 from bronchitis and heavy smoking. The 60-year-old paternal grandmother was healthy and well. There was no family member of short stature. The 38-year-old mother (162.6 cm) and the 46-year-old father (175.3 cm) both were in good health. The maternal grandfather, age 72, had a history of renal stones. The 67-year-old maternal grandmother (157.5 cm) had a history of gallstones. No one in the family was on dialysis or had kidney diseases except for the maternal grandfather’s renal stones.

At 2 months of age, the infant had persistent failure to thrive and a 1-day history of irritability and vomiting and was readmitted for diagnostic evaluation. Serum bicarbonate level was 12 mEq/L (12 mmol/L), and she was tachypneic, with a respiratory rate of 60 breaths/min and intercostal retraction. Her height was 48.5 cm (<5th percentile) and her weight was 3.45 kg (<5th percentile). Blood pressure was 81/48 mm Hg. She was alert and calm, with normal skin turgor. …