Cystic Kidney Disease: An Early Manifestation of a Rare Syndrome

Authors

  • Catarina Leuzinger-Dias Pediatric Nephrology Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, EPE, Coimbra, Portugal Author https://orcid.org/0009-0008-3941-1989
  • Joana P. Ramos Pediatric Nephrology Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, EPE, Coimbra, Portugal; Pediatrics Department, Unidade Local de Saúde Médio Tejo, Torres Novas, Portugal Author https://orcid.org/0000-0002-8821-6193
  • Marta Machado Pediatric Nephrology Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, EPE, Coimbra, Portugal Author
  • Carolina Cordinhã Pediatric Nephrology Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, EPE, Coimbra, Portugal Author
  • Carmen do Carmo Pediatric Nephrology Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, EPE, Coimbra, Portugal Author
  • Clara Gomes Pediatric Nephrology Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, EPE, Coimbra, Portugal Author

DOI:

https://doi.org/10.71749/pkj.32

Keywords:

Child, Chromosomes, Human, Pair 17, Kidney Diseases, Cystic, Pyelectasis

Abstract

Pediatric cystic kidney diseases include a diversity of hereditary or non‐hereditary conditions, whose phenotypic presen‐ tation can vary from asymptomatic to end‐stage renal disease. We report a case of a male with a prenatal diagnosis of pyelectasis. Throughout the first two years of life, serial renal ultrasound showed regression of pyelectasis, but increased renal echogenicity, first identified at three months‐old. The family history of renal diseases was negative. Voiding cystourethrography showed no signs of vesicoureteral reflux and the MAG3 renogram revealed equally functioning kidneys. At 29 months‐old, elevated transaminases and two cortical cysts were detected, raising the suspicion of a cystic kidney disease. A hepatic biopsy showed no signs of fibrosis. He was tested for autosomal recessive polycystic kidney disease (ARPKD), which was negative. Renal ultrasound showed an increase in the number of cysts bilaterally, with diffuse hyperechogenicity and reduction of parenchymal‐sinus differ‐ entiation. Throughout the years, he maintained normal blood pressure and elevated transaminases, with rising serum creatinine from the age of 13 years. A NGS panel for cystic diseases detected 17q12 deletion syndrome, which causes renal cysts and other urinary tract malfunctions, and may also present with mature‐onset diabetes of the young type 5 (MODY5) diabetes, hyperparathyroidism, altered hepatic function and behavioral and psychiatric conditions. On the last appointment (15 years‐old), ultrasound showed bilateral cysts (10 mm), worsened renal function (glomerular filtration rate (GFR) of 71 mL/min/1.73 m2), hypomagnesemia under treatment, and normal transaminases and glycemia. In this case, an atypical presentation of cystic kidney disease led to an extended investigation resourcing to other genetic panels, allowing the etiological diagnosis and enabling the early identification and monitorization of possible extra‐renal comorbidities commonly associated with this syndrome.

Downloads

Download data is not yet available.

References

Kwatra S, Krishnappa V, Mhanna C, Murray T, Novak R, Sethi SK, et al. Cystic diseases of childhood: a review. Urology. 2017;110:184‐91. doi: 10.1016/j.urology.2017.07.040.

Ferro F, Vezzali N, Comploj E, Pedron E, Di Serafino M, Esposito F, et al. Pediatric cystic diseases of the kidney. J Ultrasound. 2019;22:381‐93. doi: 10.1007/s40477‐018‐0347‐9.

De Groof J, Dachy A, Breysem L, Mekahli D. Cystic kidney diseases in children. Arch Pediatr. 2023;30:240‐6. doi: 10.1016/j. arcped.2023.02.005.

Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, et al. 17q12 deletion and duplication syndrome in Denmark‐A clinical cohort of 38 patients and review of the literature. Am J Med Genet A. 2016;170:2934‐42. doi: 10.1002/ajmg.a.37848.

El‐Khairi R, Vallier L. The role of hepatocyte nuclear factor 1β in disease and development. Diabetes Obes Metab. 2016;18 Suppl 1:23‐32. doi: 10.1111/dom.12715.

Mitchel MW, Moreno‐De‐Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, et al. 17q12 Recurrent Deletion Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al, editors. GeneReviews(®). Seattle: University of Washington; 1993

Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, et al. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J. 2010;123:3326‐33.

Kotalova R, Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, et al. Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review. World J Gastroenterol. 2015;21:2550‐7. doi: 10.3748/wjg.v21.i8.2550.

Nakamura M, Kanda S, Kajiho Y, Morisada N, Iijima K, Harita Y. A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease. CEN Case Rep. 2021;10:543‐8.

Dubois‐Laforgue D, Cornu E, Saint‐Martin C, Coste J, Bellanné‐Chantelot C, Timsit J. Diabetes, associated clinical spectrum, long‐term prognosis, and genotype/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Care. 2017;40:1436‐43. doi: 10.2337/dc16‐2462.

Pinon M, Carboni M, Colavito D, Cisarò F, Peruzzi L, Pizzol A, et al. Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review. Ital J Pediatr. 2019;45:27. doi: 10.1186/s13052‐019‐0617‐y.

Moreno‐De‐Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet. 2010;87:618‐30. doi: 10.1016/j.ajhg.2010.10.004.

Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007;81:1057‐69. doi: 10.1086/522591.

Ferrè S, Bongers EM, Sonneveld R, Cornelissen EA, van der Vlag J, van Boekel GA, et al. Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations? J Clin Endocrinol Metab. 2013;98:4089‐96. doi: 10.1210/jc.2012‐3453.

Kołbuc M, Leßmeier L, Salamon‐Słowińska D, Małecka I, Pawlaczyk K, Walkowiak J, et al. Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr Nephrol. 2020;35:1877‐86. doi: 10.1007/s00467‐020‐04576‐6.

Downloads

Published

05-11-2024

Issue

Section

Case Report

How to Cite

Cystic Kidney Disease: An Early Manifestation of a Rare Syndrome. (2024). Portuguese Kidney Journal. https://doi.org/10.71749/pkj.32

Most read articles by the same author(s)

Similar Articles

1-10 of 28

You may also start an advanced similarity search for this article.