Klinische FragestellungHyperkalzämie, infantile; Differentialdiagnose

NGS +

Phosphokalzalische Stoffwechselstörung mit früh einsetzender Hyperkalzämie, Hypophosphatämie, Hyperkalziurie, erniedrigten Serumspiegeln intakter Nebenschilddrüsenhormone, medullärer Nephrokalzinose, die sich typischerweise mit Gedeihstörungen, Hypotonie, Erbrechen, Verstopfung und/oder Polyurie manifestiert

• Alias: Hypercalaemia, idiopathic, of infancy (CYP24A1)
• Alias: Hypophosphatasia, adult (ALPL)
• Alias: Hypophosphatasia, childhood (ALPL)
• Alias: Neonatal severe hyperparathyroidism (CASR)
• Alias: Odontohypophosphatasia (ALPL)
• Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
• Allelic: Chondrodysplasia, Blomstrand type (PTH1R)
• Allelic: Eiken syndrome (PTH1R)
• Allelic: Failure of tooth eruption, primary (PTH1R)
• Allelic: Fanconi renotubular syndrome 2 (SLC34A1)
• Allelic: Hypocalcemia, AD 2 (GNA11)
• Allelic: Hypoparathyroidism, familial isolated 1 (PTH)
• Allelic: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (SLC34A1)
• Bartter syndrome, type 1 (SLC12A1)
• Bartter syndrome, type 2 (KCNJ1)
• Familial infantile hypercalcemia with suppressed intact parathyroid hormone
• Glucose/galactose malabsorption (SLC5A1)
• Hypercalcemia, infantile, 1 (CYP24A1)
• Hypercalcemia, infantile, 2 (SLC34A1)
• Hyperparathyroidism, neonatal (CASR)
• Hypocalciuric hypercalcemia, type II (GNA11)
• Hypocalciuric hypercalcemia, type III (AP2S1)
• Hypophosphatasia, infantile (ALPL)
• IMAGe syndrome (CDKN1C)
• Lactase deficiency, congenital (LCT)
• Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
• Neonatal severe primary hyperparathyroidism [Lit.] (PTH)