Klinische FragestellungNephrolithiasis, Differentialdiagnose

NGS +

ORPHA:1652 Morbus Dent; tubuläre Nierenerkrankung wegen proximaler Tubulusdysfunktion

ORPHA:93622 Morbus Dent Typ 1; Prävalenz: unbekannt (<250 Familien)

ORPHA:93623 Morbus Dent Typ 2; Prävalenz: unbekannt (~20 Fälle)

ORPHA:244305 Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose; Prävalenz: <1/1 000 000 (>10 Fälle)

Erhöhtes Risiko bei Patienten mit primärer Hyperoxalurie, Cystiurie, CF, Lesch-Nyhan Syndrom, renal-tubulärer Azidose und Xanthinurie

• Allelic: Diabetes mellitus, noninsulin-dependent (HNF4A)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: MODY, type I (HNF4A)
• Allelic: Sensorineural deafness with mild renal dysfunction (BSND)
• Adenine phosphoribosyltransferase deficiency (APRT)
• Allelic: Bronchiectasis +/- elevated sweat chloride 1, modifier of (CFTR)
• Allelic: Congenital bilateral absence of vas deferens (CFTR)
• Allelic: Hypertrypsinemia, neonatal (CFTR)
• Allelic: Pancreatitis, hereditary (CFTR)
• Allelic: Sweat chloride elevation without CF (CFTR)
• Amelogenesis imperfecta, type IG, enamel-renal syndrome (FAM20A)
• Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
• Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39)
• Bartter syndrome, type 1 (SLC12A1)
• Bartter syndrome, type 2 (KCNJ1)
• Bartter syndrome, type 4a (BSND)
• Bartter syndrome, types 3 + 4b, digenic (CLCNKB)
• Cystic fibrosis (CFTR)
• Cystinuria (SLC3A1)
• Dent disease 2 (OCRL)
• Dent syndrome (CLCN5)
• Distal renal tubular acidosis 1 (SLC4A1)
• Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
• Distal renal tubular acidosis 3, with/-out sensorineural hearing loss (ATP6V0A4)
• Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
• Fanconi renotubular syndrome 2 (SLC34A1)
• Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
• Hypercalcemia, infantile, 1 (CYP24A1)
• Hypercalcemia, infantile, 2 (SLC34A1)
• Hyperglycinuria (SLC36A2)
• Hyperoxaluria, primary, type I (AGXT)
• Hyperoxaluria, primary, type II (GRHPR)
• Hyperoxaluria, primary, type III (HOGA1)
• Hyperparathyroidism, neonatal (CASR)
• Hyperuricemia, HRPT-related (HPRT1)
• Hypocalcemia, AD (CASR)
• Hypocalcemia, AD, with Bartter syndrome (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Hypomagnesemia 3, renal (CLDN16)
• Hypomagnesemia 5, renal, with ocular involvement (CLDN19)
• Hypomagnesemia 7, renal, +/- dilated cardiomyopathy (RRAGD)
• Hypophosphatemic rickets, XLD (PHEX)
• Iminoglycinuria, digenic (SLC36A2)
• Lesch-Nyhan syndrome (HPRT1)
• Nephrolithiasis type 1 (CLCN5)
• Nephrolithiasis, calcium oxalate (SLC26A1)
• Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (SLC34A1)
• Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
• Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
• Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
• Xanthinuria, type I (XDH)
• Xanthinuria, type II (MOCOS)