Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease

被引：0

作者：

Rasel, Mohammad ^{[1
,2
]}

Istiak, Ashif ^{[1
,2
]}

Saiara, Afra ^{[1
,2
]}

Al-Jubair, Abdullah ^{[1
]}

Matin, Shariful ^{[1
]}

Roy, Gobinda Chandra ^{[1
]}

机构：

[1] Shaheed Suhrawardy Med Coll Hosp, Dhaka, Bangladesh

[2] Bangladesh Coll Phys & Surg, Dhaka, Bangladesh

来源：

CLINICAL CASE REPORTS | 2023年 / 11卷 / 07期

关键词：

Bardet-Biedl syndrome; central obesity; end-stage renal disease; polydactyly; retinitis pigmentosa; OBESITY;

D O I：

10.1002/ccr3.7649

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical MessageBardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic disorder. Because of its low prevalence and wide spectrum of clinical features, many patients remain undiagnosed. We report a case of a 14-year-old boy with a typical phenotype of BBS who remains undiagnosed until the development of end-stage renal disease.

引用

页数：6

共 50 条

[11] Primary Amenorrhea in a 15-Year-Old Girl Leading to the Diagnosis of Bardet-Biedl Syndrome: A Case Report
Noor, Azka
Kunwar, Digbijay
Tasneem, Zahra
Ishaq, Saad Ameer
CLINICAL CASE REPORTS, 2025, 13 (01):
[12] OBESITY, HYPERTENSION, AND RENAL-DISEASE IN RELATIVES OF BARDET-BIEDL SYNDROME SIBS
CROFT, JB
SWIFT, M
AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (01): : 37 - 42
[13] Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis
Gargi Ramesh Rekhawar
M. P. Bhavana
Vishal Dnyaneshwar Sawant
Sushma Save
Alpana Kondekar
Egyptian Pediatric Association Gazette, 71
[14] Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis
Rekhawar, Gargi Ramesh
Bhavana, M. P.
Sawant, Vishal Dnyaneshwar
Save, Sushma
Kondekar, Alpana
EGYPTIAN PEDIATRIC ASSOCIATION GAZETTE, 2023, 71 (01)
[15] Sixth Cardinal Feature of Bardet-Biedl Syndrome in a Child: Cystic Kidney Disease - Case Report
Pirgon, Ozgur
Atabek, Mehmet Emre
Sert, Ahmet
TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2005, 9 (01) : 29 - +
[16] Catastrophic antiphospholipid syndrome in a 14-year-old child
Tsirpanlis, G
Moustakas, G
Sakka, E
Triantafyllis, G
Sotsiou, F
Liapis, H
Ziroyannis, P
PEDIATRIC NEPHROLOGY, 2005, 20 (04) : 519 - 521
[17] Catastrophic antiphospholipid syndrome in a 14-year-old child
George Tsirpanlis
George Moustakas
Eleni Sakka
George Triantafyllis
Flora Sotsiou
Helen Liapis
Panos Ziroyannis
Pediatric Nephrology, 2005, 20 : 519 - 521
[18] A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a one-year-old Girl
Mahmood, Syeda Hania
Khan, Maria
Qadar, Laila Tul
Yousuf, Fareeha
Hasan, Mohammad
CUREUS JOURNAL OF MEDICAL SCIENCE, 2019, 11 (09)
[19] An 8-year-old boy with cataract, horseshoe kidney, obesity and hypertension; is it Bardet-Biedl syndrome?
Elmaghrabi, A.
Alassad, Y.
El-Roubi, Z.
PEDIATRIC NEPHROLOGY, 2011, 26 (09) : 1688 - 1688
[20] Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine
Karmi, Hamza B.
Abu Jwaid, Yahya
Shehadeh, Mohammad Hakam
Njoom, Dareen
Awwad, Aya
Eideh, Hasan
FRONTIERS IN PEDIATRICS, 2024, 12

← 1 2 3 4 5 →