دورية أكاديمية
Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.
| العنوان: | Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia. |
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| المؤلفون: | Akar HT; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey. akarhaliltuna@gmail.com., Yıldız H; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey., Öztürk Z; Department of Pediatric Intensive Care Medicine, Ankara Etlik City Hospital, Ankara, Turkey., Karakaya D; Department of Pediatric Nephrology, Ankara Etlik City Hospital, Ankara, Turkey., Sezer A; Deparment of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey., Olgaç A; Department of Pediatric Metabolism, Ankara Etlik City Hospital Health Complex Children's Hospital, Ankara, Turkey. |
| المصدر: | BMC nephrology [BMC Nephrol] 2024 Jul 08; Vol. 25 (1), pp. 217. Date of Electronic Publication: 2024 Jul 08. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : BioMed Central, [2000- |
| مواضيع طبية MeSH: | Nephrotic Syndrome*/complications , Nephrotic Syndrome*/etiology , Nephrotic Syndrome*/diagnosis , Vitamin B 12 Deficiency*/complications , Vitamin B 12 Deficiency*/diagnosis , Vitamin B 12 Deficiency*/genetics , Hypertension, Malignant*/complications , Hypertension, Malignant*/diagnosis , Hypertension, Malignant*/etiology, Humans ; Male ; Infant ; Oxidoreductases/deficiency ; Vitamin B 12/therapeutic use ; Carrier Proteins/genetics |
| مستخلص: | Background: The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in impaired vitamin B12 processing. While cblC defect typically manifests with hematological and neurological symptoms, renal involvement is increasingly recognized but remains rare. Case Presentation: We describe a 7-month-old male patient presenting with fatigue and edema. His first laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia and proteinuria and further examinations reveals hemolysis in peripheric blood smear. During his follow up respiratory distress due to pleural effusion in the right hemithorax was noticed. And fluid leakage to the third spaces supported nephrotic syndrome diagnosis. The patient's condition deteriorated, leading to intensive care admission due to, hypertensive crisis, and respiratory distress. High total plasma homocysteine and low methionine levels raised suspicion of cobalamin metabolism disorders. Genetic testing confirmed biallelic MMACHC gene mutations, establishing the diagnosis of cblC defect. Treatment with hydroxycobalamin, folic acid, and betaine led to remarkable clinical improvement. Discussion/conclusion: This case underscores the significance of recognizing metabolic disorders like cblC defect in atypical presentations of nephrotic syndrome. Early diagnosis and comprehensive management are vital to prevent irreversible renal damage. While cblC defects are more commonly associated with atypical hemolytic uremic syndrome, this case highlights the importance of considering cobalamin defects in the differential diagnosis of nephrotic syndrome, especially when associated with accompanying findings such as hemolysis. Our case, which has one of the highest homocysteine levels reported in the literature, emphasizes this situation again. (© 2024. The Author(s).) |
| التعليقات: | Erratum in: BMC Nephrol. 2024 Aug 9;25(1):257. doi: 10.1186/s12882-024-03692-x. (PMID: 39123108) |
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| فهرسة مساهمة: | Keywords: MMACHC; Cobalamin C deficiency; Hemolytic anemia; Inborn errors of metabolism; Nephritic syndrome |
| المشرفين على المادة: | EC 1.- (Oxidoreductases) P6YC3EG204 (Vitamin B 12) 0 (Carrier Proteins) EC 1.- (MMACHC protein, human) |
| تواريخ الأحداث: | Date Created: 20240708 Date Completed: 20240709 Latest Revision: 20240811 |
| رمز التحديث: | 20240812 |
| مُعرف محوري في PubMed: | PMC11232354 |
| DOI: | 10.1186/s12882-024-03656-1 |
| PMID: | 38977946 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1471-2369 |
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| DOI: | 10.1186/s12882-024-03656-1 |