scholarly journals A Seven Years Old Girl with Klippel-Feil Syndrome, Bilateral Sprengel Deformity, Congenital Unilateral Renal Agenesis and A Heterozygous Mutation M680I(G>C) in The MEFV Gene

2017 ◽  
pp. 90-93
Author(s):  
Recep ERÖZ ◽  
Mustafa DOĞAN ◽  
Semih BOLU ◽  
Hüseyin YÜCE
Keyword(s):  
Renal Agenesis ◽  
Mefv Gene ◽  
Heterozygous Mutation ◽  
Unilateral Renal Agenesis

Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis

2017 ◽  
Vol 46 (1) ◽  
pp. 55-63 ◽  
Author(s):  
Hangdi Wu ◽  
Qian Xu ◽  
Jingyuan Xie ◽  
Jun Ma ◽  
Panpan Qiao ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Renal Agenesis ◽  
Clinical Manifestations ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Urogenital System ◽  
Healthy Controls ◽  
Missense Mutations ◽  
Chinese Han ◽  
Unilateral Renal Agenesis

Background: Few genetic studies have focused on unilateral renal agenesis (URA), which is a disorder with insidious clinical manifestations and a tendency to result in renal failure. We aimed to detect pathogenic mutations in nephrogenesis-related genes, which were identified by a literature review conducted among a large cohort of Chinese Han patients with URA. Methods: Totally, 86 unrelated URA patients were included. All URA patients were diagnosed by employing radiological methods. Patients with a solitary kidney owing to nephrectomy or renal atrophy due to secondary factors were excluded. Nine (10.5%) patients had a family history of abnormal nephrogenesis. Fifteen (17.4%) had other malformations in the urogenital system. All coding exons and adjacent intron regions of 25 genes were analyzed using next-generation sequencing and validated by Sanger sequencing and 100 ethnically matched healthy controls. Results: Ten conserved mutations (9 missense mutations and 1 deletion mutation) were identified in SALL1, EYA1, RET, HNF1B, DSTYK, WNT4, and SIX5. All mutations were novel or rare (frequency <0.1%) in the public databases and absent from the 100 healthy controls. Nine patients carried mutations in candidate genes. Most of the patients carried one single heterozygous mutation, except for 2, who respectively carried compound heterozygous mutations and 2 single heterozygous mutations. In addition, 2 patients shared the same mutation in DSTYK. Conclusion: A total of 10.5% of our URA cases could be explained by mutations in our candidate genes. The mutations in nephrogenesis-related genes in the Chinese Han patients with URA had a decentralized distribution without any hotspot mutations.

Renal Dysplasia with Unilateral Renal Agenesis in a Dog

2005 ◽  
Vol 133 (1) ◽  
pp. 64-67 ◽  
Author(s):  
T. Morita ◽  
Y. Michimae ◽  
M. Sawada ◽  
T. Uemura ◽  
Y. Araki ◽  
...  
Keyword(s):  
Renal Agenesis ◽  
Renal Dysplasia ◽  
Unilateral Renal Agenesis

PAPA‐like syndrome with heterozygous mutation in the MEFV gene

2021 ◽  
Author(s):  
C. O’Connor ◽  
L. Kiely ◽  
C. Heffron ◽  
J. Ryan ◽  
M. Bennett
Keyword(s):  
Mefv Gene ◽  
Heterozygous Mutation

Unilateral Renal Agenesis in 2 Siblings

2006 ◽  
Vol 47 (9) ◽  
pp. 1019 ◽  
Author(s):  
Yong Duk You ◽  
Kong Jo Kim ◽  
Hee Jo Yang ◽  
Hyun Ki Jo ◽  
Doo Sang Kim ◽  
...  
Keyword(s):  
Renal Agenesis ◽  
Unilateral Renal Agenesis

Unilateral Renal Agenesis and Other Causes of the Solitary Photopenic Renal Fossa

1985 ◽  
Vol 10 (4) ◽  
pp. 270-273 ◽  
Author(s):  
WILLIAM H. HOWARD ◽  
STEPHEN R. BUNKER ◽  
ROBERT D. KARL ◽  
THOMAS RALSTON ◽  
MICHAEL F. HARTSHORNE ◽  
...  
Keyword(s):  
Renal Agenesis ◽  
Unilateral Renal Agenesis

scholarly journals Transverse vaginal septum with menouria and unilateral renal agenesis-case report

Gynecology ◽  
2015 ◽  
Vol 3 (1) ◽  
pp. 1
Author(s):  
Baafuor Kofi Opoku ◽  
Richard Owusu Kwarteng ◽  
Philip Agyeman Prempeh
Keyword(s):  
Case Report ◽  
Renal Agenesis ◽  
Vaginal Septum ◽  
Unilateral Renal Agenesis ◽  
Transverse Vaginal Septum

Bicornuate Uterus with Incomplete Vaginal Septum and Unilateral Renal Agenesis

Radiology ◽  
1979 ◽  
Vol 133 (2) ◽  
pp. 455-457 ◽  
Author(s):  
Lewis Shenker ◽  
Fred E. Brickman
Keyword(s):  
Renal Agenesis ◽  
Vaginal Septum ◽  
Unilateral Renal Agenesis ◽  
Bicornuate Uterus

Unilateral renal agenesis in a neonate with congenital diaphragmatic hernia

Open Medicine ◽  
2013 ◽  
Vol 8 (3) ◽  
pp. 358-361
Author(s):  
Kyoung Han ◽  
Kwang Kim ◽  
Jee Chang ◽  
Young Kim
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Neonatal Intensive Care ◽  
Renal Agenesis ◽  
Left Kidney ◽  
Maternity Hospital ◽  
Unilateral Renal Agenesis ◽  
Spontaneous Vaginal Delivery ◽  
Left Pleural Cavity ◽  
Dimercaptosuccinic Acid Scintigraphy

AbstractCongenital diaphragmatic hernia (CDH) is a rare and severe disorder with a high mortality rate among infants. Unilateral renal agenesis (URA) is a relatively common congenital urinary malformation. Here, we present the case of a newborn infant with left CDH associated with ipsilateral renal agenesis. The male patient was born weighing 3.850 g through normal spontaneous vaginal delivery at 38 weeks and 6 days of gestational age at a maternity hospital. He was transferred to our neonatal intensive care unit due to respiratory distress with tachypnea, grunting and cyanosis after birth. A chest radiography indicated parts of the bowel in the thoracic cavity, consistent with CDH. Renal ultrasonography indicated no kidney structure on the left side and a 5.6 cm right kidney with normal echogenicity. Repair of the diaphragmatic hernia was performed three days after birth. Most of the colon, small bowel, stomach and spleen were located in the left pleural cavity, but the left kidney was not seen. Subsequent dimercaptosuccinic acid scintigraphy indicated non-visualized functional cortical uptake in the left kidney on day 13 after birth. Thus, we report the successful treatment of a patient with CDH accompanied by URA.

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