IllnessGitelman plus Bartter syndromes, differential diagnosis

NGS +

[Sanger]

Gitelman syndrome (GS) and Bartter syndrome (BS) are each characterized by secondary hypokalemia (possibly with periodic paralysis) and normal blood pressure. In addition, GS is characterised by abnormal magnesium and calcium levels. The symptoms usually present in late childhood or adolescence with tetany, muscle weakness or cramps, dizziness, salt craving and paresthesias or fatigue, low blood pressure, occasionally chondrocalcinosis and cardiac arrhythmias. Most patients present with mild symptoms, although severe muscle spasms, paralysis and slow growth are also observed. GS is usually caused by mutations in the SLC12A3 or, less commonly, the CLCNKB gene, it is inherited in an autosomal recessive manner. BS is a group of very similar kidney diseases that cause imbalances of potassium, sodium and chloride ions. In severe cases, BS manifests before birth with polyhydramnios. The classic form begins in infancy, the infants do not thrive, lose sodium chloride, show constipation and polyuria, hypercalciuria, osteopenia, and nephrocalcinosis with hypokalemia may occur. Affected individuals may also develop sensorineural deafness. BS is caused by mutations in several genes, each with autosomal recessive inheritance. The international guidelines name about 20 genes in the differential diagnosis of GS and GS. The yield of molecular genetic diagnostics is incomplete, negative DNA test results cannot exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1338/

• 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)