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Center for Nephrology and Metabolic Disorders
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Inherited disorders of calcium balance

A wide range of renal tubular disorders affect the calcium metabolism. Disturbances may result in hight (hypercalcemia) or low (hypocalcemia) serum levels. Always disturbances of calcium balance are associated with disturbances in parathormone and vitamin D metabolism.

Pathogenesis

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Regulation of calcium homeostasis

The crucial role in calcium homeostasis plays parathormone (PTH). By the calcium sensing receptor the serum calcium level is measured and the secretion adjusted accordingly. The pathways by which PTH increases extracellular calcium is shown in the figure. PTH increases renal reabsorption and bone resorption. Enteral absorption is enhanced by activation of vitamin D.

Systematic

Disorders of tubular solute transport
Genetic disorders of proximal tubular function
Hereditary Salt-wasting tubulopathies
Inherited disorders of calcium balance
Familial hypocalciuric hypercalcemia type 1
CASR
Familial hypocalciuric hypercalcemia type 2
GNA11
Familial hypocalciuric hypercalcemia type 3
AP2S1
Familial tumoral calcinosis
Familial normophosphatemic tumoral calcinosis
SAMD9
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Hypophosphatasia
Adult hypophosphatasia
ALPL
Childhood hypophosphatasia
ALPL
Infantile hypophosphatasia
ALPL
Odontohypophosphatasia
ALPL
Infantile hypercalcemia
CYP24A1
Liddle syndrome
Nephrogenic diabetes insipidus
Pseudohypoaldosteronism
Renal tubular acidosis

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