Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry

Hölttä, Tuula; Bonthuis, Marjolein; Stralen, Karlijn J. van; Bjerre, Anna; Topaloğlu, Rezan; Özaltın, Fatih; Holmberg, Christer; Harambat, Jérôme; Jager, Kitty J.; Schaefer, Franz; Groothoff, Jaap W.

doi:10.1007/s00467-016-3517-z

Cited by 29 publications

(26 citation statements)

References 38 publications

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“…CNF has been considered a prototype of CNS and its management is still challenging [18][19][20]. Due to the variable severity of the disease, CNS patients have been treated during the past 2-3 decades according to variable protocols including an early bilateral nephrectomy and kidney transplantation (KTx), unilateral nephrectomy in an attempt to delay dialysis and transplantation, and conservative treatment until development of kidney failure [21].…”

Section: Introductionmentioning

confidence: 99%

Congenital nephrotic syndrome: is early aggressive treatment needed? Yes

Hölttä

Jalanko

2020

Pediatr Nephrol

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Congenital nephrotic syndrome (CNS) was primarily considered one disease entity. Hence, one treatment protocol was proposed in the beginning to all CNS patients. Today, with the help of gene diagnostics, we know that CNS is a heterogeneous group of disorders and therefore, different treatment protocols are needed. The most important gene defects causing CNS are NPHS1, NPHS2, WT1, LAMB2, and PLCE1. Before active treatment, all infants with CNS died. It was stated already in the mid-1980s that intensive medical therapy followed by kidney transplantation (KTx) should be the choice of treatment for infants with severe CNS. In Finland, early aggressive treatment protocol was adopted from the USA and further developed for treatment of children with the Finnish type of CNS. The aim of this review is to state reasons for “early aggressive treatment” including daily albumin infusions, intensified nutrition, and timely bilateral nephrectomy followed by KTx at the age of 1–2 years.

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Section: Introductionmentioning

confidence: 99%

Congenital nephrotic syndrome: is early aggressive treatment needed? Yes

Hölttä

Jalanko

2020

Pediatr Nephrol

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“…The prognosis of congenital NS has improved substantially in recent years. No differences in mortality and transplant outcome between Finnish and non-Finnish patients with NPHS1 mutations was noted in a recent registry report on 170 patients ( 4 ). Finnish patients started dialysis much earlier because of early bilateral nephrectomy, while in non-Finnish, many other interventions were performed (but not reported on in detail).…”

Section: Introductionmentioning

confidence: 93%

“…In this respect, patients with congenital and infantile NS are probably the most problematic group, because children often present with severe symptoms, sometimes antenatally ( 3 ). Historically, the so called “Finnish” type of NS is a good example and aggressive treatment led to a dramatic improvement of survival and long-term-outcome ( 4 ). Although patients presenting with infantile NS (onset in the first year of life) have a high risk of carrying a monogenic mutation ( 5 ), it should be noted that some patients can have a good prognosis reaching remission with supportive treatment alone ( 6 ); individual patients may in fact have minimal change disease responding to steroids.…”

Section: Introductionmentioning

confidence: 99%

Treatment of Genetic Forms of Nephrotic Syndrome

Kemper

Lemke

2018

Front. Pediatr.

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Idiopathic steroid-resistant nephrotic syndrome (SRNS) is most frequently characterized by focal segmental glomerulosclerosis (FSGS) but also other histological lesions, such as diffuse mesangial sclerosis. In the past two decades, a multitude of genetic causes of SRNS have been discovered raising the question of effective treatment in this cohort. Although no controlled studies are available, this review will discuss treatment options including pharmacologic interventions aiming at the attenuation of proteinuria in genetic causes of SRNS, such as inhibitors of the renin–angiotensin–aldosterone system and indomethacin. Also, the potential impact of other interventions to improve podocyte stability will be addressed. In this respect, the treatment with cyclosporine A (CsA) is of interest, since a podocyte stabilizing effect has been demonstrated in various experimental models. Although clinical response to CsA in children with genetic forms of SRNS is inferior to sporadic SRNS, some recent studies show that partial and even complete response can be achieved even in individual patients inherited forms of nephrotic syndrome. Ideally, improved pharmacologic and molecular approaches to induce partial or even complete remission will be available in the future, thus slowing or even preventing the progression toward end-stage renal disease.

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“…These patients are at risk from several co-morbidities that may impact on their long-term functioning and quality of life. The low incidence of CNS has essentially precluded randomised controlled trials of management strategies though long-term registry data, particularly from Finland, has provided some reassuring outcome data that these children can have an excellent outlook 48–50. The management of complications can be broadly divided into those associated with the nephrotic state, those arising from impaired glomerular filtration rate (GFR), and those associated with co-morbidities, e.g.…”

Section: Managementmentioning

confidence: 99%

<p>Diagnostic and Management Challenges in Congenital Nephrotic Syndrome</p>

Reynolds

Oswald

2019

PHMT

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Congenital Nephrotic Syndrome (CNS) is defined as nephrotic range proteinuria, hypoalbuminaemia and edema in the first three months of life. CNS is most commonly genetic in cause, with international variance in the incidence of causative mutations. Initially defined by the histopathological appearance, increasingly sophisticated and accessible genetic analyses now provide a body of evidence to suggest that there is a disparity between the histological appearance, the genotype of individuals and the severity of the clinical disease. Through the evolution of management approaches CNS has changed from being an invariably fatal condition to one with appreciable ongoing morbidity and mortality but comparably good outcomes to other causes of paediatric end-stage renal disease, especially following transplantation. This review briefly summarises the more commonly recognised genetic mutations leading to CNS, addresses common management decisions, and concludes with potential therapies for the future.

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Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry

Abstract: Overall, 5-year patient and graft survival of both Finnish and non-Finnish NPHS1 patients on RRT were excellent and comparable with CAKUT patients with equally early RRT onset and was independent of the timing of RRT initiation and RTX.

Cited by 29 publications

References 38 publications

Congenital nephrotic syndrome: is early aggressive treatment needed? Yes

Congenital nephrotic syndrome: is early aggressive treatment needed? Yes

Treatment of Genetic Forms of Nephrotic Syndrome

<p>Diagnostic and Management Challenges in Congenital Nephrotic Syndrome</p>

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