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. 2019 Aug 5;42(5):1019–1029. doi: 10.1002/jimd.12134

Table 2.

Recommended tests for CMBD

Assessment Methods and frequency
Growth
  • Calculate genetic target height based on parental height

  • Plot height/length and weight on growth charts in infants (monthly) and preschool children (3 monthly) and older children (6 monthly)

  • Calculate annual height velocity

  • Measure head circumference every 3 months in infants and small children

Bone metabolism
  • Measure serum iPTH, calcium, phosphate, ALP, and bicarbonate levels every 1 to 6 months depending on the clinical status and CKD stage

  • Consider iliac crest bone biopsies, with tetracycline labeling in cases of unclear severe bone disorder

Bone deformities
  • Check for rickets and scoliosis by physical examination and/or radiographs (eg, X‐ray of the knees and/or the wrist), with regular follow‐up

Growth hormone
  • Evaluate IGF‐1 serum levels prior to starting treatment with GH to rule out GH deficiency

  • Obtain X‐ray of the left wrist in children aged >5 years to assess bone age and prove growth potential (ie, open epiphyses) prior to initiation of GH treatment

Thyroid function
  • Check TSH and thyroxine levels annually, more frequently if following treatment

  • Perform ultrasound of the thyroid to exclude other thyroid disease

Gonadal function
  • For male patients at pubertal age: monitor levels of FSH, LH, testosterone, inhibin B, and prolactin annually after age 14 years

  • For female patients at pubertal age (14 years): determine first menstrual cycle and monitor levels of FSH, LH, estradiol, anti‐mullerian hormone, and prolactin annually

Muscle function
  • Obtain mechanographic testing, for example, grip strength

Other
  • WBC cystine levels to assess disease control

Abbreviations: ALP, alkaline phosphatase; CKD, chronic kidney disease; FSH, follicle‐stimulating hormone; GH, growth hormone; IGF‐1, Insulin‐like growth factor 1; iPTH, intact serum parathyroid hormone; LH, luteinizing hormone; TSH, thyroid‐stimulating hormone.