Parathyroid cysts: Report of the sixth and youngest pediatric case

1994 ◽  
Vol 29 (12) ◽  
pp. 1528-1529 ◽  
Author(s):  
John W.C. Entwistle ◽  
Catherine V. Pierce ◽  
Danna E. Johnson ◽  
Sean C. O'Donovan ◽  
Charles E. Bagwell ◽  
...  
Keyword(s):  
Pediatric Case ◽  
Parathyroid Cysts

Pediatric case of the day. Diffuse lipoblastomatosis.

1996 ◽  
Vol 167 (1) ◽  
pp. 271-271 ◽  
Author(s):  
J McIlhenny ◽  
S E Campbell ◽  
R J Raible ◽  
G M Antaki
Keyword(s):  
Pediatric Case

Nevus comedonicus syndrome: a new pediatric case.

1998 ◽  
Vol 15 (4) ◽  
pp. 304-306 ◽  
Author(s):  
A Patrizi ◽  
I Neri ◽  
C Fiorentini ◽  
S Marzaduri
Keyword(s):  
Pediatric Case

scholarly journals Green tea-induced anaphylaxis: The first pediatric case report

2021 ◽  
Author(s):  
Naoki Kajita ◽  
Satoshi Miyama ◽  
Kazue Kinoshita ◽  
Koichi Yoshida ◽  
Masami Narita
Keyword(s):  
Case Report ◽  
Green Tea ◽  
Pediatric Case

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Suramath Isaranuwatchai ◽  
Ankanee Chanakul ◽  
Chupong Ittiwut ◽  
Chalurmpon Srichomthong ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Treatment Plan ◽  
Unknown Etiology ◽  
Pediatric Case ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome

Chronic kidney disease of unknown etiology (CKDu) has been a problem in renal practice as indefinite diagnosis may lead to inappropriate management. Here, we report a 54-year-old father diagnosed with CKDu at 33 years old and his 8-year-old son with steroid-resistant nephrotic syndrome. Using whole-exome sequencing, both were found to be heterozygous for c.737G>A (p.Arg246Gln) in LMX1B. The diagnosis of LMX1B-associated nephropathy has led to changes in the treatment plan with appropriate genetic counseling. The previously reported cases with this particular mutation were also reviewed. Most children with LMX1B-associated nephropathy had nonnephrotic proteinuria with normal renal function. Interestingly, our pediatric case presented with steroid-resistant nephrotic syndrome at 8 years old and progressed to ESRD requiring peritoneal dialysis at the age of 15 years. Our report emphasized the need of genetic testing in CKDu for definite diagnosis leading to precise management.

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