Klinische FragestellungGitelman- plus Bartter-Syndrom, Differentialdiagnose

NGS +

[Sanger]

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)