The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore Syndrome
INTRODUCTION: Creatinine was started to be used as a marker of glomerular filtration rate (GFR) in 1920’s. Later in the 1990s, cystatin C was shown to be superior to creatinine in assessing GFR. In some patients, glomerular filtration of cystatin C was found to be low compared to creatinine, and it...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Rabia Yılmaz
2020-06-01
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| Series: | Journal of Contemporary Medicine |
| Subjects: | |
| Online Access: | https://dergipark.org.tr/tr/pub/jcm/issue/54170/701276 |
| _version_ | 1797913645401767936 |
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| author | Caner Kabasakal Seçil Conkar İpek Kaplan Bulut Başak İşdaş Sevgin Taner |
| author_facet | Caner Kabasakal Seçil Conkar İpek Kaplan Bulut Başak İşdaş Sevgin Taner |
| author_sort | Caner Kabasakal |
| collection | DOAJ |
| description | INTRODUCTION: Creatinine was started to be used as a marker of glomerular filtration rate (GFR) in 1920’s. Later in the 1990s, cystatin C was shown to be superior to creatinine in assessing GFR. In some patients, glomerular filtration of cystatin C was found to be low compared to creatinine, and it was hypothesized that glomerular pores may have been shrunken in these patients. For the group of patients having a cystatin C based estimation of GFR (eGFR cystatin C) to creatinine-based estimation of GFR (eGFR creatinine) ratio of ≤60%, the pathophysiological classification is defined as Shrunken Pore Syndrome.
CASE: A 16-month-old female patient was admitted to Ege University Pediatric nephrology clinic with the diagnosis of neurogenic bladder secondary to meningomyelocele. She had a history of antenatal meningomyelocele, and hydrocephalus diagnosed as Arnold Chiari type 2. On postnatal day 1, she had undergone meningomyelocele sac excision and ventriculoperitoneal shunt operation. There was no history of pyelonephritis. Systemic examination revealed a dysmorphic facial appearance, operation scar on her back and syndactyly of the toes, and paraplegia on neurological examination. In laboratory examination; urea: 24 mg/dL, creatinine: 0.3 mg/dL, parathormone: 47 ng/mL, cystatin C: 1.4 mg/L (RR: 0.53-0.95), blood β2 microglobulin: 2716 ng/mL. Patient’s eGFRcystatin C: 107 ml/min/1.73m2 and eGFRcreatinine: 188 ml/min/1.73m2. Shrunken Pore Syndrome was considered due to the difference between the patient's eGFRcystatin C value and eGFRcreatinine value.
CONCLUSION: Shrunken Pore Syndrome has no known treatment; however, it is important to diagnose these patients because of accompanying risks such as increased cardiac mortality. With the usage of cystatin C as a marker of GFR, possible mortality risks can be predictable and preventive measures can be taken early on. |
| first_indexed | 2024-04-10T12:15:02Z |
| format | Article |
| id | doaj.art-ca2cff4b0856442f9d413ce3bc87bc77 |
| institution | Directory Open Access Journal |
| issn | 2667-7180 |
| language | English |
| last_indexed | 2024-04-10T12:15:02Z |
| publishDate | 2020-06-01 |
| publisher | Rabia Yılmaz |
| record_format | Article |
| series | Journal of Contemporary Medicine |
| spelling | doaj.art-ca2cff4b0856442f9d413ce3bc87bc772023-02-15T16:15:50ZengRabia YılmazJournal of Contemporary Medicine2667-71802020-06-011022842861809The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore SyndromeCaner Kabasakal0Seçil Conkar1İpek Kaplan Bulut2Başak İşdaş3Sevgin Taner4EGE ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK SAĞLIĞI VE HASTALIKLARI ANABİLİM DALI, NEFROLOJİ BİLİM DALIEGE ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK SAĞLIĞI VE HASTALIKLARI ANABİLİM DALI, NEFROLOJİ BİLİM DALIEGE ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK SAĞLIĞI VE HASTALIKLARI ANABİLİM DALI, NEFROLOJİ BİLİM DALIEGE ÜNİVERSİTESİ, TIP FAKÜLTESİEGE ÜNİVERSİTESİ, TIP FAKÜLTESİ, DAHİLİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK SAĞLIĞI VE HASTALIKLARI ANABİLİM DALI, NEFROLOJİ BİLİM DALIINTRODUCTION: Creatinine was started to be used as a marker of glomerular filtration rate (GFR) in 1920’s. Later in the 1990s, cystatin C was shown to be superior to creatinine in assessing GFR. In some patients, glomerular filtration of cystatin C was found to be low compared to creatinine, and it was hypothesized that glomerular pores may have been shrunken in these patients. For the group of patients having a cystatin C based estimation of GFR (eGFR cystatin C) to creatinine-based estimation of GFR (eGFR creatinine) ratio of ≤60%, the pathophysiological classification is defined as Shrunken Pore Syndrome. CASE: A 16-month-old female patient was admitted to Ege University Pediatric nephrology clinic with the diagnosis of neurogenic bladder secondary to meningomyelocele. She had a history of antenatal meningomyelocele, and hydrocephalus diagnosed as Arnold Chiari type 2. On postnatal day 1, she had undergone meningomyelocele sac excision and ventriculoperitoneal shunt operation. There was no history of pyelonephritis. Systemic examination revealed a dysmorphic facial appearance, operation scar on her back and syndactyly of the toes, and paraplegia on neurological examination. In laboratory examination; urea: 24 mg/dL, creatinine: 0.3 mg/dL, parathormone: 47 ng/mL, cystatin C: 1.4 mg/L (RR: 0.53-0.95), blood β2 microglobulin: 2716 ng/mL. Patient’s eGFRcystatin C: 107 ml/min/1.73m2 and eGFRcreatinine: 188 ml/min/1.73m2. Shrunken Pore Syndrome was considered due to the difference between the patient's eGFRcystatin C value and eGFRcreatinine value. CONCLUSION: Shrunken Pore Syndrome has no known treatment; however, it is important to diagnose these patients because of accompanying risks such as increased cardiac mortality. With the usage of cystatin C as a marker of GFR, possible mortality risks can be predictable and preventive measures can be taken early on.https://dergipark.org.tr/tr/pub/jcm/issue/54170/701276shrunken pore syndromecystatin ccreatininegfrglomerular filtration rateshrunken pore sendromuglomerüler filtrasyon hızıgfrsistatin csistatin c gfr |
| spellingShingle | Caner Kabasakal Seçil Conkar İpek Kaplan Bulut Başak İşdaş Sevgin Taner The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore Syndrome Journal of Contemporary Medicine shrunken pore syndrome cystatin c creatinine gfr glomerular filtration rate shrunken pore sendromu glomerüler filtrasyon hızı gfr sistatin c sistatin c gfr |
| title | The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore Syndrome |
| title_full | The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore Syndrome |
| title_fullStr | The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore Syndrome |
| title_full_unstemmed | The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore Syndrome |
| title_short | The Pediatric Case of a Recently Defined Syndrome: Shrunken Pore Syndrome |
| title_sort | pediatric case of a recently defined syndrome shrunken pore syndrome |
| topic | shrunken pore syndrome cystatin c creatinine gfr glomerular filtration rate shrunken pore sendromu glomerüler filtrasyon hızı gfr sistatin c sistatin c gfr |
| url | https://dergipark.org.tr/tr/pub/jcm/issue/54170/701276 |
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