Alkaptonuria : a new association of distal renal tubular acidosis

Alkaptonuria : a new association of distal renal tubular acidosis

Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the connective tissues in different tissues. This is the first report of a child presented with primary distal renal tubular acidosis associated with ALK. Both disorders were managed by their specific me...

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Veröffentlicht in:Saudi journal of kidney diseases and transplantation 2018-07, Vol.29 (4), p.997-999
Hauptverfasser: Nickavar, Azar, Azar, Maryam Razzaghy
Format: Artikel
Sprache:eng
Schlagworte:
Alkaptonuria
Care and treatment
Chromatography
Complications and side effects
Dosage and administration
Hearing loss
Laboratories
Metabolism
Nitisinone
Skin
Tyrosine
Urine
الأمراض
الحماض
الحماض النبيبي الكلوي
الكلى
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Beschreibung
Zusammenfassung:Alkaptonuria (ALK) is a rare genetic disorder, characterized by binding of ochronotic pigment to the connective tissues in different tissues. This is the first report of a child presented with primary distal renal tubular acidosis associated with ALK. Both disorders were managed by their specific medical treatments, with no further complication.
ISSN:1319-2442
2320-3838
DOI:10.4103/1319-2442.239645