Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/ Concern	Evaluation	Comment
Renal	Venous blood gas or total plasma CO₂	Eval of acid-base equilibrium Sample to be drawn in fasting conditions & immediately before scheduled dose of alkali to assess effectiveness of therapy
Serum creatinine, urea, sodium, potassium, chloride	Evaluate glomerular filtration rate; assess hypokalemia, hydration status.
Serum calcium, phosphate, alkaline phosphatase, magnesium	Assess for hypocalcemia, biochemical evidence of rickets, hypophosphatemia.
Uric acid, albumin	Assess for assoc tubular dysfunction.
Urinalysis	Detection of proteinuria, hematuria, & leukocyturia
Isolated urine sample for creatinine, sodium, potassium, calcium, & citrate. Note: Sample should be taken simultaneously w/serum/plasma samples enabling calculation of renal tubular handling of these electrolytes.	Excretion of sodium & potassium can be estimated by calculation of appropriate indices (mL/dL glomerular filtrate, fractional excretions of sodium & potassium) to monitor renal function & therapy. Detection of hypercalciuria by calcium/creatinine ratio. Hypercalciuria may indicate inadequate correction of acidosis. Detection of hypocitraturia may imply inadequate treatment.
Ultrasound	Eval for nephrocalcinosis, urolithiasis, & medullary cysts
ENT	Audiometry	Eval for sensorineural hearing loss
Constitutional	Measurement of length/height & weight	Use for calculation of body mass index to assess nutritional status; baseline values to assess response to therapy (correction of height deficit expected if short stature is present) & to adjust alkali dosage.

System/
Concern

Evaluation

Comment

Renal

Venous blood gas or total plasma CO₂

Eval of acid-base equilibrium
Sample to be drawn in fasting conditions & immediately before scheduled dose of alkali to assess effectiveness of therapy

Serum creatinine, urea, sodium, potassium, chloride

Evaluate glomerular filtration rate; assess hypokalemia, hydration status.

Serum calcium, phosphate, alkaline phosphatase, magnesium

Assess for hypocalcemia, biochemical evidence of rickets, hypophosphatemia.

Uric acid, albumin

Assess for assoc tubular dysfunction.

Urinalysis

Detection of proteinuria, hematuria, & leukocyturia

Isolated urine sample for creatinine, sodium, potassium, calcium, & citrate.
Note: Sample should be taken simultaneously w/serum/plasma samples enabling calculation of renal tubular handling of these electrolytes.

Excretion of sodium & potassium can be estimated by calculation of appropriate indices (mL/dL glomerular filtrate, fractional excretions of sodium & potassium) to monitor renal function & therapy.
Detection of hypercalciuria by calcium/creatinine ratio. Hypercalciuria may indicate inadequate correction of acidosis.
Detection of hypocitraturia may imply inadequate treatment.

Ultrasound

Eval for nephrocalcinosis, urolithiasis, & medullary cysts

ENT

Audiometry

Eval for sensorineural hearing loss

Constitutional

Measurement of length/height & weight

Use for calculation of body mass index to assess nutritional status; baseline values to assess response to therapy (correction of height deficit expected if short stature is present) & to adjust alkali dosage.

From: Hereditary Distal Renal Tubular Acidosis

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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