Renal tubular acidosis in the Silver-Russell syndrome

Renal tubular acidosis in the Silver-Russell syndrome

Several patients with the Silver‐Russell syndrome (SRS) attending our Genetics Clinic were diagnosed as having persistent metabolic acidosis. Since this abnormality has not been reported previously in the SRS, we reexamined 33 SRS patients to evaluate the frequency and type of metabolic acidosis, th...

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Veröffentlicht in:American journal of medical genetics 1995-03, Vol.56 (2), p.173-175
Hauptverfasser: Alvarenga, Ramón, del Angel, Ariadna González, del Castillo, Victoria, de la Puente, Silvestre García, Maulén, Irene, Carnevale, Alessandra
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - diagnosis
Acidosis, Renal Tubular - diagnosis
Biological and medical sciences
Child
Child, Preschool
Complex syndromes
Dwarfism - genetics
Dwarfism - metabolism
Face - abnormalities
Female
Genitalia - abnormalities
Humans
Infant
Kidney Function Tests
Male
Medical genetics
Medical sciences
Nutritional Status - genetics
renal tubular acidosis
Silver-Russell
Syndrome
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Zusammenfassung:Several patients with the Silver‐Russell syndrome (SRS) attending our Genetics Clinic were diagnosed as having persistent metabolic acidosis. Since this abnormality has not been reported previously in the SRS, we reexamined 33 SRS patients to evaluate the frequency and type of metabolic acidosis, the clinical and laboratory findings, and the growth pattern in SRS patients with and without metabolic acidosis. Among them, 14 had a consistent decrease in HCO 3− levels. Renal studies in acidotic patients showed urine pH of 5.8 and 24 h urine calcium of
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320560212