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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessNephrolithiasis, expanded panel; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Nephrolithiasis (large panel) comprising 10 guideline-curated and altogether 52 curated genes

ID
NP0590
Number of genes
47 Accredited laboratory test
Examined sequence length
32,6 kb (Core-/Core-canditate-Genes)
92,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

{Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AGXT1179NM_000030.3AR
APRT543NM_000485.3AR
ATP6V0A42523NM_020632.3AR
ATP6V1B11542NM_001692.4AR
CA2783NM_000067.3AR
CLCN52241NM_000084.5XLR
CLDN19675NM_148960.3AR
CYP24A11545NM_000782.5AR
GRHPR987NM_012203.2AR
HOGA1984NM_138413.4AR
HPRT1657NM_000194.3XLR
OCRL2706NM_000276.4XLR
PHEX2250NM_000444.6XL
SLC34A11920NM_003052.5AD, AR
SLC34A31800NM_080877.2AD, AR
SLC36A21452NM_181776.3AR, AD, digenisch
SLC3A12058NM_000341.4AD, AR, digenisch
SLC4A12736NM_000342.4AD, AR
XDH4002NM_000379.4AR
ADCY104374NM_001167749.3AD
BSND963NM_057176.3AR
CASR3237NM_000388.4AD, AR
CFTR4443NM_000492.4AR
CLDN16918NM_006580.4AR
CNNM22628NM_017649.5AD, AR
CYP27B11527NM_000785.4AR
FAM20A1212NM_001243746.2AR
FXYD2201NM_001680.5AD
GNA111080NM_002067.5AD
HNF4A1359NM_175914.4AD
KCNJ11176NM_000220.6AR
SCNN1A2010NM_001038.6AD, AR
SCNN1B1923NM_000336.3AD, AR
SCNN1G1950NM_001039.4AD, AR
SLC12A13300NM_000338.3AR
SLC17A31497NM_001098486.2AD
SLC22A121560NM_001276326.2AR
SLC26A12106NM_022042.4AR
SLC2A91536NM_001001290.2AR, AD
SLC4A43108NM_003759.4AR
SLC7A91464NM_014270.5AD, AR
SLC9A3R11077NM_004252.5AD
STRADA1185NM_001003786.3AR
VDR1284NM_001017535.2AD
VPS33B1854NM_018668.5AR
WNK17149NM_018979.4AD
WNK43732NM_032387.5AD

Informations about the disease

Clinical Comment

Nephrolithiasis is most likely to develop from age 40-60, but stones can occur at any age; 35-50% of patients develop additional stones later. Although there are many sorts of kidney stones, four main types are distinguished according to their composition. Up to 75% of all kidney stones consist primarily of calcium, e.g. due to hypercalciuria. In addition, the stones may consist of uric acid, cystine or phosphate salts. Genetic alterations can increase the risk of developing kidney stones, often in combination with a number of environmental and lifestyle factors. Most of the genes involved transmit cell signals or transport substances in and out of cells. Changes in these genes can alter the amount of critical substances in the cells, leading to an imbalance of minerals and compounds in the urine. This increases the likelihood of stone formation. Dispositions that increase the overall risk for kidney stones include obesity, type 2 diabetes, inflammatory bowel disease, gout, hyperparathyroidism, renal tubular acidosis and recurrent urinary tract infections. Overall, the risk of developing nephrolithiasis is higher in individuals with affected relatives than in the general population. Inheritance of kidney stone disease is usually multifactorial. In the rare cases of mendelian inheritance, all classical transmission patterns occur. Gene panels identify a causative variant in about 20% of nephrolithiasis patients in childhood and less than 12-15% in adulthood (up to nearly 30% before age 25). The obvious clinical diagnosis can never be excluded by a negative DNA test result.

References: https://jasn.asnjournals.org/content/28/3/748.short

https://jasn.asnjournals.org/content/jnephrol/26/3/543.full.pdf

 

Synonyms
  • Adenine phosphoribosyltransferase deficiency (APRT)
  • Allelic: Amelogenesis imperfecta, type IIA3 (WDR72)
  • Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
  • Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39)
  • Cystinuria (SLC3A1, SLC7A9)
  • 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)
  • Distal renal tubular acidosis [MONDO:0015827] (WDR72)
  • Fanconi renotubular syndrome 2 (SLC34A1)
  • 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)
  • Hyperuricemia, HRPT-related (HPRT1)
  • Hypomagnesemia 5, renal, with ocular involvement (CLDN19)
  • Hypophosphatemic rickets, XLD (PHEX)
  • Iminoglycinuria, digenic (SLC36A2)
  • Lesch-Nyhan syndrome (HPRT1)
  • Nephrolithiasis type 1 (CLCN5)
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (SLC34A1)
  • Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
  • Xanthinuria, type I (XDH)
  • Xanthinuria, type II (MOCOS)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined