Abstract
Objective: To gain information on the progression and manifestations of Alport's syndrome, as well as on the experience of treatment in the different patients. Materials and Methods: Five pediatric patients (four boys, one girl) with Alport's syndrome seen between 1993-1999 were included in this study. The clinical, histological, and genetic features as well as treatment were reviewed by medical records. Kidney biopsies were obtained from two patients. Results: Four patients were familial cases, and one male patient was a sporadic case. In the four boys, the first sign of the disease was hematuria. Proteinuria is variable, ranging from detectable in early stages to a nephrotic range in advanced stages. One patient with persistent nephritic range proteinuria went into renal insufficiency at the age of 8 years after being followed-up for 5 years. In the other boys, the symptomatology was limited to permanent hematuria and mild to heavy proteinuria. In the girl, the symptomatology was limited to permanent hematuria with mild proteinuria. The ophthalmologic evaluation failed to show lenticonus or macular flecks in our patients. Hearing impairment was noted in two boys at the age of 5 years. Conclusions: Patients with persistence of heavy proteinuria had a worse prognosis. Careful monitoring of renal function and early intervention for proteinuria are proposed for optimal preservation of kidney function.
| Original language | English |
|---|---|
| Pages (from-to) | 99-104 |
| Number of pages | 6 |
| Journal | Tzu Chi Medical Journal |
| Volume | 12 |
| Issue number | 2 |
| Publication status | Published - 2000 Jan 1 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Medicine(all)
Cite this
}
Alport's syndrome : Clinical experience with five pediatric patients from two families. / Lai, C. H.; Lin, K. Y.; Chiou, Yuan-Yow; Sue, Y. J.; Chen, F. F.
In: Tzu Chi Medical Journal, Vol. 12, No. 2, 01.01.2000, p. 99-104.Research output: Contribution to journal › Article
TY - JOUR
T1 - Alport's syndrome
T2 - Clinical experience with five pediatric patients from two families
AU - Lai, C. H.
AU - Lin, K. Y.
AU - Chiou, Yuan-Yow
AU - Sue, Y. J.
AU - Chen, F. F.
PY - 2000/1/1
Y1 - 2000/1/1
N2 - Objective: To gain information on the progression and manifestations of Alport's syndrome, as well as on the experience of treatment in the different patients. Materials and Methods: Five pediatric patients (four boys, one girl) with Alport's syndrome seen between 1993-1999 were included in this study. The clinical, histological, and genetic features as well as treatment were reviewed by medical records. Kidney biopsies were obtained from two patients. Results: Four patients were familial cases, and one male patient was a sporadic case. In the four boys, the first sign of the disease was hematuria. Proteinuria is variable, ranging from detectable in early stages to a nephrotic range in advanced stages. One patient with persistent nephritic range proteinuria went into renal insufficiency at the age of 8 years after being followed-up for 5 years. In the other boys, the symptomatology was limited to permanent hematuria and mild to heavy proteinuria. In the girl, the symptomatology was limited to permanent hematuria with mild proteinuria. The ophthalmologic evaluation failed to show lenticonus or macular flecks in our patients. Hearing impairment was noted in two boys at the age of 5 years. Conclusions: Patients with persistence of heavy proteinuria had a worse prognosis. Careful monitoring of renal function and early intervention for proteinuria are proposed for optimal preservation of kidney function.
AB - Objective: To gain information on the progression and manifestations of Alport's syndrome, as well as on the experience of treatment in the different patients. Materials and Methods: Five pediatric patients (four boys, one girl) with Alport's syndrome seen between 1993-1999 were included in this study. The clinical, histological, and genetic features as well as treatment were reviewed by medical records. Kidney biopsies were obtained from two patients. Results: Four patients were familial cases, and one male patient was a sporadic case. In the four boys, the first sign of the disease was hematuria. Proteinuria is variable, ranging from detectable in early stages to a nephrotic range in advanced stages. One patient with persistent nephritic range proteinuria went into renal insufficiency at the age of 8 years after being followed-up for 5 years. In the other boys, the symptomatology was limited to permanent hematuria and mild to heavy proteinuria. In the girl, the symptomatology was limited to permanent hematuria with mild proteinuria. The ophthalmologic evaluation failed to show lenticonus or macular flecks in our patients. Hearing impairment was noted in two boys at the age of 5 years. Conclusions: Patients with persistence of heavy proteinuria had a worse prognosis. Careful monitoring of renal function and early intervention for proteinuria are proposed for optimal preservation of kidney function.
UR - http://www.scopus.com/inward/record.url?scp=0033853184&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033853184&partnerID=8YFLogxK
M3 - Article
VL - 12
SP - 99
EP - 104
JO - Tzu Chi Medical Journal
JF - Tzu Chi Medical Journal
SN - 1016-3190
IS - 2
ER -