Sevgin TANER, Başak İŞDAŞ, İpek KAPLAN BULUT, Seçil CONKAR, Caner KABASAKAL

Yeni Tanımlanmış Bir Sendrom olan Shrunken Pore Sendromlu Çocuk Hasta

GİRİŞ: Sistatin C bazlı tahmini Glomerüler filtrasyon hızı (GFR) ölçümleri son dönem böbrek yetmezliği, kardiyovasküler bulgular ve mortaliteyi öngörmede kreatinin bazlı ölçümlerden üstün olup; cinsiyet, yaş ve kas kitlesinden bağımsızdır. Bazı olgularda sistatin C’nin filtrasyonunun, kreatinine göre daha az olduğu gözlemlenmiş ve bunun porların daralmasından kaynaklandığı kanıtlanmıştır. Sistatin C bazlı tahmini GFR (eGFRsistatin C), kreatinin bazlı tahmini GFR’nin (eGFRkreatinin) %60’ına eşit veya bunun altında olması patofizyolojik olarak ‘Shrunken Pore Sendromu’ olarak tanımlanmıştır. Bu yazıda Shrunlen Pore sendromlu bir kız olgudan bahsedildi. OLGU: 16 aylık kız hastanın meningomiyelosel ve nörojenik mesane ile Ege Üniversitesi Çocuk Nefroloji polikliniğine başvurdu. Özgeçmişinde antenatal meningomyelosel ve hidrosefali nedeniyle Arnold Chiari tip 2 tanısı, postnatal 1. günde meningomyelosel kesesi eksizyonu ve ventriküloperitoneal şant operasyonu mevcuttu. Piyelonefrit öyküsü yoktu. Fizik bakısında; dismorfik yüz görünümü, parapleji, belde operasyon skarı, ayak parmaklarında sindaktili mevcuttu. Laboratuvar incelemesinde; üre:24 mg/dL, kreatinin: 0,3 mg/dL, parathormon: 47 ng/mL, Sistatin C 1,4 mg/L (RA:0.53-0.95), kan beta 2 mikroglobulin: 2716 ng/mL idi. Hastanın eGFRsistatin C: 107 ml/ dk/1.73m2 ve eGFRkreatinin: 188 ml/dk/1,73m2 idi. Hastada eGFR sistatin C değeri ile eGFRkreatinin değeri arasındaki farktan dolayı Shrunken Pore Sendromu düşünüldü. SONUÇ: Shrunken Pore Sendromlu hastalarda artmış kardiyak mortalite riski belirtildiğinden; GFR belirteci olarak sistatin C‘nin kullanılması, hem kardiyak riskli hastaları hem de hastalığın gerçek prevalansını belirlemeyi sağlamakta önem taşımaktadır.

Anahtar Kelimeler:

shrunken pore sendromu, glomerüler filtrasyon hızı, GFR, sistatin C, sistatin C GFR

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 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.

Keywords:

shrunken pore syndrome, cystatin C, creatinine, GFR, glomerular filtration rate,

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