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Adolesan bir Erkek Çocukta Poliüri: Tanısal Güçlük

Year 2021, , 427 - 430, 23.09.2021
https://doi.org/10.12956/tchd.791013

Abstract

Çocuklarda poliüri, altta yatan renal veya sistemik bir hastalığın ilk bulgusu olarak görülebildiği için ayırıcı tanısı güç bir bulgu olabilir.
Bilinen herhangi bir hastalığı olmayan adolesan bir erkek çocuk poliüri ile başvurdu. Detaylı öyküsünde öğrenme güçlüğü, konuşma bozukluğu, dengesiz yürüyüş bulguları ile polidaktili operasyonu öyküsü saptandı. Akraba evliliği olması ve 21 yaşındayken aniden son dönem böbrek hastalığı teşhisi konan bir erkek kardeşinin olması gibi ipuçları altta yatan genetik bir etiyolojiye işaret ediyordu. Fizik muayenede pektus ekskavatum, atipik yüz görünümü, dizartri, hipotoni, rotatuar nistagmus, bozulmuş tandem yürüyüş, retinada hiperpigmente düzensizlikler görüldü. Labotatuvar tetkikleri sonucunda tübülopatinin eşlik ettiği Evre-4 kronik böbrek hastalığı olduğu gösterildi. Ultrasonografide ise kortikomedüller bileşkede kistik lezyonlar saptandı. Böylece hastaya Juvenil nefronofitizis tanısı koyuldu. Ayrıca ileri incelemeler sırasında, kranial MRI görüntülemesinde “Molar Diş Bulgusu” belirlendi. Tüm bu klinik ve radyolojik bulgular, Joubert Sendromu İlişkili Hastalıklar spektrumuna işaret etmekteydi. Olgunun kendisi ve kardeşinde genetik analizinde homozigot NPHP1 delesyonlarını saptandı. Literatürden farklı olarak, vakamızda ve abisinde persistan trombositopeni şeklinde
Nefronofitizisin genetik heterojenliği ve fenotipik değişkenliği tanısal güçlüğe neden olmaktadır. NPHP1 delesyonları çoğunlukla izole nefronofitizisde olmakla birlikte, JSRD gibi siliyopati sendromlarında da tanımlanmıştır. Bu vaka böbrek, retina, iskelet ve nörolojik tutulumlara ek olarak hematolojik tutulumu da olması nedeniyle özgüldür. Bu vakanın, gelecekteki genotip-fenotip çalışmalarına ışık tutabileceğini düşünmekteyiz.

References

  • 1. Bhasin B, Velez JC. Evaluation of Polyuria: The Roles of Solute Loading and Water Diuresis. Am J Kidney Dis. 2016;67(3):507-11.
  • 2. Simms RJ, Hynes AM, Eley L, Sayer JA. Nephronophthisis: a genetically diverse ciliopathy. Int J Nephrol. 2011;2011:527137.
  • 3. Blowey DL, Querfeld U, Geary D, Warady BA, Alon U. Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol. 1996;10(1):22-4.
  • 4. Watnick T, Germino G. From cilia to cyst. Nat Genet 2003;34:355–356.
  • 5. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 2009;20(1):23–35.
  • 6. Betz R, Rensing C, Otto E et al: Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 2000; 136: 828–831.
  • 7. Castori M, Valente EM, Donati MA et al: NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005; 42: e9.
  • 8. Gleeson JG, Keeler LC, Parisi MA et al. Molar tooth sign of the midbrain- hindbrain junction occurrence in multiple distinct syndromes. Am J Med Genet A 2004;125:125-134
  • 9. Caridi G, Dagnino M, Rossi A et al. Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association. Kidney Int. 2006;70(7):1342-7.
  • 10. Gattone VH, Wang X, Harris PC, Torres VE. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med 2003;9:1323–1326.
  • 11. Tobin JL, Beales PL. Restoration of renal function in zebrafish models of ciliopathies. Pediatr Nephrol 2008;23(11):2095–9.
  • 12. Leuenroth SJ, Bencivenga N, Igarashi P, Somlo S, Crews CM. Triptolide reduces cystogenesis in a model of ADPKD. JASN 2008;19(9):16591662.
  • 13. Bukanov NO, Smith LA, Klinger KW, Ledbetter SR, Ibraghimov-Beskrovnaya O. Longlasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. Nature. 2006;444(7121):949-52.

An Adolescent Boy Presented with Polyuria: A Diagnostic Challange.

Year 2021, , 427 - 430, 23.09.2021
https://doi.org/10.12956/tchd.791013

Abstract

Polyuria in children may become a diagnostic challenge since it may be seen as presenting symptom of an underlying renal or systemic disease.
An adolescent boy, who did not have any known illness, was presented with polyuria. The detailed history revealed the findings of learning difficulty, speech impairment, unsteady gait and an operation of polydactyly. He had consanguineous parents and a brother who had abruptly diagnosed with the end-stage renal disease at the age of 21. These clues pointed to genetic background. On physical examination, he had pectus excavatum, atypical facial appearance, dysarthria, hypotonia, rotatory nystagmus, impaired tandem walk, hyperpigmented retinal irregularities. Laboratory examinations showed Stage-4 chronic kidney disease accompanied by tubulopathy. Ultrasonography detected cystic lesions on the corticomedullary junction. Thus, the patient had diagnosed Juvenile-Nephronophthisis. During further examinations, Molar Tooth Sign was detected in cranial MRI imaging. All these clinical and radiological findings indicate the spectrum of Joubert-Syndrome-Related-Disorders (JSRD). Genetic analysis of the patient and his brother revealed homozygous NPHP1 deletion. Distinctly from literature, they both had hematological involvement in the form of persistent thrombocytopenia.
Genetic heterogeneity and phenotypic variability of nephronophthisis are major challenges. Although NPHP1 deletions are mostly identified in isolated nephronophthisis, they have also been described in complex ciliopathy syndromes such as JSRD. This case is also specific due to haematological involvement additional to kidney, retina, skeleton, neurological. We think, this case may shed light on future genotype-phenotype studies.

References

  • 1. Bhasin B, Velez JC. Evaluation of Polyuria: The Roles of Solute Loading and Water Diuresis. Am J Kidney Dis. 2016;67(3):507-11.
  • 2. Simms RJ, Hynes AM, Eley L, Sayer JA. Nephronophthisis: a genetically diverse ciliopathy. Int J Nephrol. 2011;2011:527137.
  • 3. Blowey DL, Querfeld U, Geary D, Warady BA, Alon U. Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol. 1996;10(1):22-4.
  • 4. Watnick T, Germino G. From cilia to cyst. Nat Genet 2003;34:355–356.
  • 5. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 2009;20(1):23–35.
  • 6. Betz R, Rensing C, Otto E et al: Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 2000; 136: 828–831.
  • 7. Castori M, Valente EM, Donati MA et al: NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005; 42: e9.
  • 8. Gleeson JG, Keeler LC, Parisi MA et al. Molar tooth sign of the midbrain- hindbrain junction occurrence in multiple distinct syndromes. Am J Med Genet A 2004;125:125-134
  • 9. Caridi G, Dagnino M, Rossi A et al. Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association. Kidney Int. 2006;70(7):1342-7.
  • 10. Gattone VH, Wang X, Harris PC, Torres VE. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med 2003;9:1323–1326.
  • 11. Tobin JL, Beales PL. Restoration of renal function in zebrafish models of ciliopathies. Pediatr Nephrol 2008;23(11):2095–9.
  • 12. Leuenroth SJ, Bencivenga N, Igarashi P, Somlo S, Crews CM. Triptolide reduces cystogenesis in a model of ADPKD. JASN 2008;19(9):16591662.
  • 13. Bukanov NO, Smith LA, Klinger KW, Ledbetter SR, Ibraghimov-Beskrovnaya O. Longlasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. Nature. 2006;444(7121):949-52.
There are 13 citations in total.

Details

Primary Language English
Subjects ​Internal Diseases
Journal Section CASE REPORTS
Authors

Gökçen Erfidan 0000-0001-5217-5847

Demet Alaygut 0000-0002-2164-4652

Eren Soyaltın 0000-0001-9744-7439

Cemaliye Başaran This is me 0000-0002-6422-7998

Yaşar Kutbay This is me

Seçil Arslansoyu Çamlar 0000-0002-2402-0722

Fatma Mutlubaş This is me 0000-0001-9392-4832

Belde Demir 0000-0002-5456-3509

Publication Date September 23, 2021
Submission Date September 9, 2020
Published in Issue Year 2021

Cite

Vancouver Erfidan G, Alaygut D, Soyaltın E, Başaran C, Kutbay Y, Arslansoyu Çamlar S, Mutlubaş F, Demir B. An Adolescent Boy Presented with Polyuria: A Diagnostic Challange. Türkiye Çocuk Hast Derg. 2021;15(5):427-30.

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