Klinische FragestellungGitelman- plus Bartter-Syndrom, Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Gitelman- plus Bartter-Syndrom mit 9 kuratierten Genen gemäß klinischer Verdachtsdiagnose
- (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Infos zur Erkrankung
ORPHA:358 + ORPHA:112
Unterschiede Bartter Syndrom vs. Gitelman Syndrom
Nierendefekt aufsteigende Henle-Schleife (s. Effekte von Schleifendiuretika) distaler Tubulus (s. Effekte von Thiaziden)
Ca-Ausscheidung (Harn) normal/erhöht, häufig Nephrokalzinose reduziert
Mg (Serum) normal/vermindert reduziert/erheblich reduziert
renale Prostaglandin-E2-Prod. erhöht normal
Alter Erstsymptome Geburt/frühe Kindheit, oft mentale Retardieung, reduz. Wachstum späte Kindheit/Erwachsenenalter
neuromuskuläre Symptome, selten + schwach häufig
Muskelkrämpfe, Schwäche
- 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)
- AD
- AR
- XLR
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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