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Nephrocalcinosis


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Nephrocalcinosis

Clinical feature: 

Definition: This group of diseases is characterized by accumulation of calcium-containing hard-substances in kidney's interstitium and recurrent kidney stones.

Diagnostics: 

Differential: Uric acid nephropathy is also accompanied by accumulation of interstitial in the kidney and recurrent nephrolithiasis, but by contrast uric acid cristals are not x-ray detectable.  » » » 

Systematic link table: 

Urolithiasis
Cystinuria
SLC3A1
SLC7A9
Dihydroxyadenin urolithiasis
APRT
Hyperuricemic nephropathy
Nephrocalcinosis
CYP24A1
Bartter syndrome
Antenatal Bartter syndrome type 1
SLC12A1
Antenatal Bartter syndrome type 2
KCNJ1
Classic Bartter syndrome
CLCNKB
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB
Dent disease
CLCN5
OCRL1
Hereditary Rickets
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
Dent disease
CLCN5
OCRL1
Lowe disease
OCRL1
Vitamin D hydroxylation-deficient rickets type 1A
CYP27B1
Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1
Vitamin D-dependent rickets, type 2A
VDR
Vitamin D-dependent rickets, type 2B
RXRA
autosomal dominant hypophosphatemic rickets
FGF23
x-linked dominant hypophosphatemic rickets
PHEX
Hyperoxaluria
Hyperoxaluria type I
AGXT
Hyperoxaluria type II
GRHPR
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Lowe disease
OCRL1
Renal tubular acidosis
ATP6V0A4
ATP6V1B1
CA2
SLC4A1
SLC4A4
Nephrolithiasis diarrhea syndrome
SLC26A6

Literature: 

Vervaet BA et al. (2009) Nephrocalcinosis: new insights into mechanisms and consequences.
Stechman MJ et al. (2009) Genetic causes of hypercalciuric nephrolithiasis.
Moochhala SH et al. (2008) Renal calcium stones: insights from the control of bone mineralization.