Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation
Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome. Various renal developmental abnormalities and maturity-onset diabetes of the young could be the p...
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| Format: | Article |
| Language: | English |
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Galenos Publishing House
2021-12-01
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| Series: | Medeniyet Medical Journal |
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| Online Access: | https://medeniyetmedicaljournal.org/jvi.aspx?pdir=medeniyet&plng=eng&un=MEDJ-02686&look4= |
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| author | Nilüfer Göknar Melda Ekici Avcı Diana Üçkardeş Emre Keleşoğlu Kübra Tekkuş Ermiş Cengiz Candan |
| author_facet | Nilüfer Göknar Melda Ekici Avcı Diana Üçkardeş Emre Keleşoğlu Kübra Tekkuş Ermiş Cengiz Candan |
| author_sort | Nilüfer Göknar |
| collection | DOAJ |
| description | Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome. Various renal developmental abnormalities and maturity-onset diabetes of the young could be the presenting factors of these mutations. A 10-year-old boy who was evaluated for bilateral cystic kidneys and chronic kidney disease from the newborn period was diagnosed with HNF1B-related glomerulocystic disease by DNA sequencing. The differential diagnosis of autosomal dominant polycystic kidney disease was a diagnostic pitfall. The genetic screening of the family revealed his mother, sister, and brother to have the same mutation. Therefore, genetic diagnosis and counseling are important for cystic kidney diseases not only for formulating the diagnosis and early management plan but also for the diagnosis of potential asymptomatic cases in the family. |
| format | Article |
| id | doaj-art-bf8f3bc483be4b05a88de306b53dc45b |
| institution | Kabale University |
| issn | 2149-2042 2149-4606 |
| language | English |
| publishDate | 2021-12-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Medeniyet Medical Journal |
| spelling | doaj-art-bf8f3bc483be4b05a88de306b53dc45b2025-02-03T08:56:15ZengGalenos Publishing HouseMedeniyet Medical Journal2149-20422149-46062021-12-0136435235510.4274/MMJ.galenos.2021.02686Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case PresentationNilüfer Göknar0https://orcid.org/0000-0003-4376-1216Melda Ekici Avcı1https://orcid.org/0000-0003-1077-3165Diana Üçkardeş2https://orcid.org/0000-0002-3849-3280Emre Keleşoğlu3https://orcid.org/0000-0001-6686-7633Kübra Tekkuş Ermiş4https://orcid.org/0000-0003-1893-2722Cengiz Candan5https://orcid.org/0000-0002-9560-8304Istanbul Medeniyet University Faculty of Medicine, Department of Pediatric Nephrology, Istanbul, TurkeyIstanbul Medeniyet University Faculty of Medicine, Department of Pediatrics, Istanbul, TurkeyIstanbul Medeniyet University Faculty of Medicine, Department of Pediatric Nephrology, Istanbul, TurkeyIstanbul Medeniyet University Faculty of Medicine, Department of Pediatric Nephrology, Istanbul, TurkeyUniversity of Health Sciences Turkey, Umraniye Training and Research Hospital, Clinic of Genetics, Istanbul, TurkeyIstanbul Medeniyet University Faculty of Medicine, Department of Pediatric Nephrology, Istanbul, TurkeyMutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome. Various renal developmental abnormalities and maturity-onset diabetes of the young could be the presenting factors of these mutations. A 10-year-old boy who was evaluated for bilateral cystic kidneys and chronic kidney disease from the newborn period was diagnosed with HNF1B-related glomerulocystic disease by DNA sequencing. The differential diagnosis of autosomal dominant polycystic kidney disease was a diagnostic pitfall. The genetic screening of the family revealed his mother, sister, and brother to have the same mutation. Therefore, genetic diagnosis and counseling are important for cystic kidney diseases not only for formulating the diagnosis and early management plan but also for the diagnosis of potential asymptomatic cases in the family.https://medeniyetmedicaljournal.org/jvi.aspx?pdir=medeniyet&plng=eng&un=MEDJ-02686&look4=hyperechogenic kidneyschronic kidney diseasecystic kidney diseaseinfant |
| spellingShingle | Nilüfer Göknar Melda Ekici Avcı Diana Üçkardeş Emre Keleşoğlu Kübra Tekkuş Ermiş Cengiz Candan Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation Medeniyet Medical Journal hyperechogenic kidneys chronic kidney disease cystic kidney disease infant |
| title | Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation |
| title_full | Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation |
| title_fullStr | Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation |
| title_full_unstemmed | Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation |
| title_short | Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation |
| title_sort | hepatocyte nuclear factor 1 beta mutation associated newborn onset of glomerulocystic kidney disease a case presentation |
| topic | hyperechogenic kidneys chronic kidney disease cystic kidney disease infant |
| url | https://medeniyetmedicaljournal.org/jvi.aspx?pdir=medeniyet&plng=eng&un=MEDJ-02686&look4= |
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