©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGitelman plus Bartter syndromes, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Gitelman plus Bartter syndromes comprising 9 curated genes according to the clinical signs

ID
GP0090
Number of genes
6 Accredited laboratory test
Examined sequence length
13,7 kb (Core-/Core-canditate-Genes)
- (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-GHeredity
BSND963AR
CASR3237AD, AR
KCNJ11176AR
MAGED21832XLR
SLC12A13300AR
SLC12A33093AR

Informations about the disease

Clinical Comment

ORPHA:358 + ORPHA:112

Differences Bartter syndrome vs. Gitelman syndrome

Renal defect ascending loop of Henle (s. effects of loop diuretica) distale tubulus (see effects of thiazids)

Ca excretion (urine) normal/elvated, often nephrocalzinosis reduced

Mg (serum) normal/reduced reduced / highly reduced

renal prostaglandin-E2 prod. elevated normal

Age at initial symptoms birth/early childhood, often intellectual deficit, small stature late chilhood / adults

neuromuscular symptoms, rare + weak frequent

muscle cramps, weakness

 

Synonyms
  • Allelic: Bronchiectasis with or without elevated sweat chloride 3 (SCNN1G)
  • Allelic: Bronchiectasis with/-out elevated sweat chloride 2 (SCNN1A)
  • Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
  • Allelic: Epilepsy, childhood absence, susceptibility to, 6 (CACNA1H)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 6 (CACNA1H)
  • Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
  • Allelic: Hyperparathyroidism, neonatal (CASR)
  • Allelic: Hypertension, early-onset, AD, exacerbation in pregnancy (NR3C2)
  • Allelic: Hypocalciuric hypercalcemia, type I (CASR)
  • Allelic: Leukoencephalopathy with ataxia (CLCN2)
  • Allelic: Long QT syndrome 13 (KCNJ5)
  • Allelic: Renal cell carcinoma (HNF1B)
  • Allelic: Sensorineural deafness with mild renal dysfunction (BSND)
  • Allelic: Type 2 diabetes mellitus (HNF1B)
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
  • Aldosteronism, glucocorticoid-remediable (CYP11B1)
  • Apparent mineralocorticoid excess (HSD11B2)
  • Bartter syndrome, type 1 (SLC12A1)
  • Bartter syndrome, type 2 (KCNJ1)
  • Bartter syndrome, type 3 (CLCNKB)
  • Bartter syndrome, type 4a (BSND)
  • Bartter syndrome, type 4b, digenic (CLCNKA)
  • Bartter syndrome, type 5, antenatal, transient (MAGED2)
  • Diarrhea 1, secretory chloride, congenital (SLC26A3)
  • Gitelman syndrome (SLC12A3)
  • HELIX s.: Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysf., Ichthyosis, Xerostomia (CLDN10)
  • Hyperaldosteronism, familial, type II (CLCN2)
  • Hyperaldosteronism, familial, type III (KCNJ5)
  • Hyperaldosteronism, familial, type IV (CACNA1H)
  • Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Liddle syndrome 2: pseudoaldosteronism, AD form of salt-sensitive hypertension (SCNN1G)
  • Liddle syndrome 3: pseudoaldosteronism, AD form of salt-sensitive hypertension (SCNN1A)
  • Pseudohypoaldosteronism type I, AD (NR3C2)
  • Pseudohypoaldosteronism, type I (SCNN1A)
  • Pseudohypoaldosteronism, type I (SCNN1G)
  • Pseudohypoaldosteronism, type IIB (WNK4)
  • Renal cysts + diabetes syndrome (HNF1B)
  • SESAME syndr.: Seizures, Sensorineural deafness, Ataxia, Mental retard., Electrolyte imbal. (KCNJ10)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
N15.8

Bioinformatics and clinical interpretation

No text defined