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Familial hypokalemia-hypomagnesemia(GTLMNS)

MedGen UID:
75681
Concept ID:
C0268450
Disease or Syndrome
Synonyms: Gitelman Syndrome; GTLMNS; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Potassium and magnesium depletion
SNOMED CT: Gitelman's syndrome (707756004); Gitelman syndrome (707756004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC12A3 (16q13)
 
Monarch Initiative: MONDO:0009904
OMIM®: 263800
Orphanet: ORPHA358

Definition

Gitelman syndrome (GTLMNS) is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. [from OMIM]

Additional description

From MedlinePlus Genetics
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.

The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.  https://medlineplus.gov/genetics/condition/gitelman-syndrome

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Enuresis
MedGen UID:
8649
Concept ID:
C0014394
Disease or Syndrome
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
Hypocalciuria
MedGen UID:
9381
Concept ID:
C0020599
Disease or Syndrome
An abnormally decreased calcium concentration in the urine.
Nocturia
MedGen UID:
14440
Concept ID:
C0028734
Disease or Syndrome
Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Renal potassium wasting
MedGen UID:
339499
Concept ID:
C1846348
Finding
High urine potassium in the presence of hypokalemia.
Renal magnesium wasting
MedGen UID:
1811452
Concept ID:
C5574944
Finding
High urine magnesium in the presence of hypomagnesemia.
Hypotension
MedGen UID:
5715
Concept ID:
C0020649
Finding
Low Blood Pressure, vascular hypotension.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Polydipsia
MedGen UID:
43214
Concept ID:
C0085602
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
Salt craving
MedGen UID:
116112
Concept ID:
C0240928
Finding
Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.
Paralysis
MedGen UID:
105510
Concept ID:
C0522224
Finding
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
Rhabdomyolysis
MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Muscle spasm
MedGen UID:
52431
Concept ID:
C0037763
Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Tetany
MedGen UID:
11748
Concept ID:
C0039621
Finding
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Chondrocalcinosis
MedGen UID:
154303
Concept ID:
C0553730
Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Generalized muscle weakness
MedGen UID:
155433
Concept ID:
C0746674
Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hypokalemic alkalosis
MedGen UID:
43208
Concept ID:
C0085570
Disease or Syndrome
Hypomagnesemia
MedGen UID:
57481
Concept ID:
C0151723
Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Recurrent fever
MedGen UID:
811468
Concept ID:
C3714772
Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Increased circulating renin level
MedGen UID:
66818
Concept ID:
C0240783
Finding
An increased level of renin in the blood.
Blurred vision
MedGen UID:
91020
Concept ID:
C0344232
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial hypokalemia-hypomagnesemia
Follow this link to review classifications for Familial hypokalemia-hypomagnesemia in Orphanet.

Professional guidelines

PubMed

Sienicka A, Pisula A, Kacperczyk-Bartnik J, Dobrowolska-Redo A, Romejko-Wolniewicz E
Ginekol Pol 2022;93(10):856-857. doi: 10.5603/GP.a2022.0111. PMID: 36748177
Do C, Vasquez PC, Soleimani M
Am J Kidney Dis 2022 Oct;80(4):536-551. Epub 2022 May 5 doi: 10.1053/j.ajkd.2021.12.016. PMID: 35525634Free PMC Article
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Curated

Knoers NV, Devuyst O, Kamsteeg EJ
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Feb 23 doi: 10.1038/ejhg.2011.14. PMID: 21343949Free PMC Article

Recent clinical studies

Etiology

Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article
Lemmink HH, Knoers NV, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP
Kidney Int 1998 Sep;54(3):720-30. doi: 10.1046/j.1523-1755.1998.00070.x. PMID: 9734597
Smilde TJ, Haverman JF, Schipper P, Hermus AR, van Liebergen FJ, Jansen JL, Kloppenborg PW, Koolen MI
J Rheumatol 1994 Aug;21(8):1515-9. PMID: 7983657

Diagnosis

Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article
Barakat AJ, Rennert OM
J Nephrol 2001 Jan-Feb;14(1):43-7. PMID: 11281344
Lemmink HH, Knoers NV, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP
Kidney Int 1998 Sep;54(3):720-30. doi: 10.1046/j.1523-1755.1998.00070.x. PMID: 9734597
Zarraga Larrondo S, Vallo A, Gainza J, Muñiz R, Garcia Erauzkin G, Lampreabe I
Nephron 1992;62(3):340-4. doi: 10.1159/000187070. PMID: 1436349

Prognosis

Knoers NV, Levtchenko EN
Orphanet J Rare Dis 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. PMID: 18667063Free PMC Article
Barakat AJ, Rennert OM
J Nephrol 2001 Jan-Feb;14(1):43-7. PMID: 11281344
Lemmink HH, Knoers NV, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP
Kidney Int 1998 Sep;54(3):720-30. doi: 10.1046/j.1523-1755.1998.00070.x. PMID: 9734597
Smilde TJ, Haverman JF, Schipper P, Hermus AR, van Liebergen FJ, Jansen JL, Kloppenborg PW, Koolen MI
J Rheumatol 1994 Aug;21(8):1515-9. PMID: 7983657

Clinical prediction guides

Lemmink HH, Knoers NV, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP
Kidney Int 1998 Sep;54(3):720-30. doi: 10.1046/j.1523-1755.1998.00070.x. PMID: 9734597
Smilde TJ, Haverman JF, Schipper P, Hermus AR, van Liebergen FJ, Jansen JL, Kloppenborg PW, Koolen MI
J Rheumatol 1994 Aug;21(8):1515-9. PMID: 7983657

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