Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary chronic kidney disease presenting with progre...
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Oman Medical Specialty Board
2024-11-01
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| Series: | Oman Medical Journal |
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| author | Intisar Al Alawi Maryam Al Shehhi Naifain Al Kalbani Aliya Al Hosni Ashwaq Al Mimani Issa Al Salmi John A. Sayer |
| author_facet | Intisar Al Alawi Maryam Al Shehhi Naifain Al Kalbani Aliya Al Hosni Ashwaq Al Mimani Issa Al Salmi John A. Sayer |
| author_sort | Intisar Al Alawi |
| collection | DOAJ |
| description | Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary chronic kidney disease presenting with progressive renal impairment and hematoproteinuria. We report a rare case of concurrent karyomegalic interstitial nephritis and autosomal recessive polycystic kidney disease in a two-year-old Omani boy. He presented with failure to thrive, developmental delay, hypotonia, recurrent urinary tract infection, proteinuria, and hematuria. Abdominal ultrasonography showed bilaterally enlarged kidneys with distorted parenchyma, loss of corticomedullary differentiation, and multiple small cysts in addition to an enlarged liver. Whole exome sequencing of the patient DNA revealed a homozygous likely-pathogenic variant in FAN1(NM_014967.4:c.2854C>T, p.R952*) segregating from each parent, in addition to a homozygous missense variantin polycystic kidney and hepatic disease 1(NM_138694.3:c.406A>G, p.T136A). Familial carrier testing in parents and a similarly affected brother revealed segregation of thepolycystic kidney and hepatic disease 1 variant in a homozygous state in the father and brother, and in a heterozygous state in the mother. This case demonstrates two rare genetic causes of chronic kidney disease within a highly consanguineous family, mimicking an autosomal dominant pattern of inheritance of cystic kidney disease. We recommend whole exome sequencing as a routine molecular diagnostic tool for children with cystic kidney disease, especially those from consanguineous families. |
| format | Article |
| id | doaj-art-57ccede4cb044c9089260695555bcc6f |
| institution | OA Journals |
| issn | 1999-768X 2070-5204 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Oman Medical Specialty Board |
| record_format | Article |
| series | Oman Medical Journal |
| spelling | doaj-art-57ccede4cb044c9089260695555bcc6f2025-08-20T02:09:42ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042024-11-01396e698e69810.5001/omj.2024.34Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani ChildIntisar Al Alawi0Maryam Al Shehhi1Naifain Al Kalbani2 Aliya Al Hosni3Ashwaq Al Mimani4Issa Al Salmi5John A. Sayer6Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UKNational Genetic Centre, Royal Hospital, Muscat, OmanInternal Medicine Residency Training Program, Oman Medical Specialty Board, Muscat, OmanNational Genetic Centre, Royal Hospital, Muscat, OmanNational Genetic Centre, Royal Hospital, Muscat, OmanRenal Medicine Department, Royal Hospital, Muscat, OmanRenal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UKAutosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary chronic kidney disease presenting with progressive renal impairment and hematoproteinuria. We report a rare case of concurrent karyomegalic interstitial nephritis and autosomal recessive polycystic kidney disease in a two-year-old Omani boy. He presented with failure to thrive, developmental delay, hypotonia, recurrent urinary tract infection, proteinuria, and hematuria. Abdominal ultrasonography showed bilaterally enlarged kidneys with distorted parenchyma, loss of corticomedullary differentiation, and multiple small cysts in addition to an enlarged liver. Whole exome sequencing of the patient DNA revealed a homozygous likely-pathogenic variant in FAN1(NM_014967.4:c.2854C>T, p.R952*) segregating from each parent, in addition to a homozygous missense variantin polycystic kidney and hepatic disease 1(NM_138694.3:c.406A>G, p.T136A). Familial carrier testing in parents and a similarly affected brother revealed segregation of thepolycystic kidney and hepatic disease 1 variant in a homozygous state in the father and brother, and in a heterozygous state in the mother. This case demonstrates two rare genetic causes of chronic kidney disease within a highly consanguineous family, mimicking an autosomal dominant pattern of inheritance of cystic kidney disease. We recommend whole exome sequencing as a routine molecular diagnostic tool for children with cystic kidney disease, especially those from consanguineous families.https://omjournal.org/articleDetails.aspx?coType=1&aId=3868autosomal recessive polycystic kidney diseasechronic kidney diseasewhole exome sequencingoman |
| spellingShingle | Intisar Al Alawi Maryam Al Shehhi Naifain Al Kalbani Aliya Al Hosni Ashwaq Al Mimani Issa Al Salmi John A. Sayer Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child Oman Medical Journal autosomal recessive polycystic kidney disease chronic kidney disease whole exome sequencing oman |
| title | Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child |
| title_full | Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child |
| title_fullStr | Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child |
| title_full_unstemmed | Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child |
| title_short | Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child |
| title_sort | rare combination of phenotypes of karyomegalic interstitial nephritis and autosomal recessive polycystic kidney disease in an omani child |
| topic | autosomal recessive polycystic kidney disease chronic kidney disease whole exome sequencing oman |
| url | https://omjournal.org/articleDetails.aspx?coType=1&aId=3868 |
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