hhhhhhh

1. Differential diagnosis with
tubulopathies

2. Renal tubular acidosis Defect Key symptoms Findings
Distal renal tubular
acidosis (type 1)
Distal nephron cells
cannot acidify urine
Can’t excrete
H+(acidemia)
Can’t resorb
K+(hypokalemia)
Alkaline urine
precipitates stones
(sometimes bilateral)
Acidosis ↑Ca from
bones
Acidosis suppresses
calcium resorption (↑Ca
in urine)
Chronic kidney
stones,Rickets
Amphotericin B
toxicity, analgesic
nephropathy, congenital
anomalies of urinary
tract, autoimmune
diseases
pH should be ≥5.5
positive urinary anion
gap (UAG)
Very low bicarb on
blood work (<10)
Hypokalemia
Hypercalciuria
Proximal renal tubular
acidosis (type 2
Fanconi syndrome can
lead to PRTA
Generalized failure of
proximal tubule
Urine loss of phosphate,
glucose, amino acids,
urate, protein
Bone wasting from
phosphate loss
abnormal vitamin D
metabolism impair
growth in children
rickets/osteomalacia
resistant to vitamin D
Deformities
Fractures
pH should be <5.3
Aminoaciduria,
hyperphosphaturia,
glycosuria, and
often pRTA.
Hypokalemia due to
aldosterone secretion
Familial
hypophosphatemic
rickets
Decreased proximal
renal tubular resorption
of phosphate
renal phosphate wasting
and hypophosphatemia
.Genetic testing can
help confirm the
diagnosis
Growth retardation and
short stature to severe
rickets or osteomalacia
phosphate level
>0.8mmol/l
25(OH)D3 and Ca
normal
1,25(OH)D3 low

5. Hypervitaminosis D Spasmophilia Rickets
Laboratory findings
include hypercalcemia,
hypercalcuria, hematuria,
albuminuria, and
documentation of elevated
levels of vitamin D2 or D3
Decreased level of ionized
Ca2+ on the background of
hyperphosphatemia and
alkalosis, seizures
significant reduction in ionized
Ca2+, high levels of
parathyroid hormone (PTH),
decreased calcitonin
Low phosphorus
Enhanced the accumulation of
salts in the newly formed bone,
cortical thickening, new nuclei
of ossification, since excess
vitamin D inhibits the activity
of parathyroid glands
Laryngospasm — convulsive
spasm of the glottis on
inspiration, accompanied by a
"cock's cry" and cyanosis. ▪
Carpopedal spasm — tonic
contraction of limb muscles
mainly in the hands ("hand of
obstetrician") and foot (“horse
foot").
Most cases of rickets can be
treated with vitamin D and
calcium supplements