IllnessHypocitraturia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Hypocitraturia comprising 4 curated genes according to the clinical signs

HP9951

Number of loci

Locus type	Count
Gen	4

Accredited laboratory test

Examined sequence length

6,9 kb (Core-/Core-canditate-Genes)
10,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ATP6V0A4	2523	605239	NM_020632.3	AR
ATP6V1B1	1542	192132	NM_001692.4	AR
SLC4A1	2736	109270	NM_000342.4	AD, AR
SLC4A2	3783	109280	NM_001199692.3	n.k.

Informations about the disease

Clinical Comment

Citrate inhibits the formation of kidney stones. In patients suffering from kidney stones, a low citrate level in the urine can be detected in 20-60% of cases (hypocitraturia). The cause of hypocitraturia is usually idiopathic, but can also be influenced by various other factors, including renal tubular acidosis, hypokalemia, diet and genetic causes.

This panel examines the most common genetic causes of hypocitraturia and renal tubular acidosis. Because the pathogenesis is not fully understood, a normal finding does not rule out the presence of a genetic cause for hypocitraturia.

(Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777061/)

Synonyms

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, AR [genecards] (SLC4A2)

Heredity, heredity patterns etc.

AD
AR
n.k.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined