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Hypokalemic tubulopathy and deafness(HKTD)

MedGen UID:
1785163
Concept ID:
C5543621
Disease or Syndrome
Synonyms: HKTD; HYPOKALEMIC TUBULOPATHY AND DEAFNESS
 
Gene (location): KCNJ16 (17q24.3)
 
Monarch Initiative: MONDO:0859167
OMIM®: 619406

Definition

Hypokalemic tubulopathy and deafness (HKTD) is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness (Schlingmann et al., 2021). [from OMIM]

Clinical features

From HPO
Renal salt wasting
MedGen UID:
375868
Concept ID:
C1846347
Finding
A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
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).
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.
Acidosis
MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
Abnormal acid accumulation or depletion of base.
Increased circulating aldosterone concentration
MedGen UID:
6960
Concept ID:
C0020428
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
Increased circulating renin concentration
MedGen UID:
66818
Concept ID:
C0240783
Finding
An increased level of renin in the blood.

Professional guidelines

PubMed

Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R
Nephrol Dial Transplant 2009 May;24(5):1455-64. Epub 2008 Dec 18 doi: 10.1093/ndt/gfn689. PMID: 19096086

Recent clinical studies

Etiology

Chen J, Fu Y, Sun Y, Zhou X, Wang Q, Li C, Yuan H
Mol Genet Genomic Med 2023 Nov;11(11):e2238. Epub 2023 Jul 19 doi: 10.1002/mgg3.2238. PMID: 37466410Free PMC Article

Diagnosis

Chen J, Fu Y, Sun Y, Zhou X, Wang Q, Li C, Yuan H
Mol Genet Genomic Med 2023 Nov;11(11):e2238. Epub 2023 Jul 19 doi: 10.1002/mgg3.2238. PMID: 37466410Free PMC Article

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