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Insights Image for “Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition”
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Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition
Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly involving most commonly the mediastinum, lung, skin and bones with few effective treatments. In recent years, RAS-MAPK pathway mutations were s...
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HOXA11 is another monogenic cause of congenital anomalies of the kidney and urinary tract—Reply
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Open AccessEffect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF
Familial Mediterranean Fever (FMF) is the most common monogentic autoinflammatory disease. FMF results from mutations in MEFV, which lead to a pro-inflammatory state and increased production of Interleukin 1 beta...
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Open AccessColchicine treatment can be discontinued in a selected group of pediatric FMF patients
Familial Mediterranean Fever (FMF) patients are required to adhere to a life-long treatment with colchicine, primarily for preventing amyloidosis. As some patients may be asymptomatic for long periods of time,...
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The genetic basis of congenital anomalies of the kidney and urinary tract
During the past decades, remarkable progress has been made in our understanding of the molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing genetic changes. Congenital anom...
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A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights
Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of g...
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Open AccessHereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom
Lim** and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential diagnosis. An unusual etiology, is that of a hereditary neuropathy.
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Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome
Kabuki syndrome (KS) is a genetic disorder caused mainly by de novo pathogenic variants in KMT2D or KDM6A, characterized by recognizable facial features, intellectual disability, and multi-systemic involvement, i...
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Acute pyelonephritis in children and the risk of end-stage kidney disease
Pyelonephritis is the most common serious bacterial infection during childhood. The long-term importance of kidney scarring is unclear.
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Correction to: Childhood risk factors for adulthood chronic kidney disease
The authors regret that the name of the author Michal Stern-Zimmer was incorrectly rendered as “Michal Stern Zimmer.”
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Childhood risk factors for adulthood chronic kidney disease
Chronic kidney disease (CKD) is a major public health challenge, affecting as much as 8 to 18% of the world population. Identifying childhood risk factors for future CKD may help clinicians make early diagnose...
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Kidney failure risk in type 1 vs. type 2 childhood-onset diabetes mellitus
Diabetic kidney disease (DKD) is becoming increasingly common among children. We aimed to estimate the risk of end-stage renal disease (ESKD) and mortality among adolescents with type 1 diabetes mellitus (T1DM...
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The association between obesity and secular trend of stature: a nationwide study of 2.8 million adolescents over five decades
It is unclear whether adolescent obesity is associated with limited linear growth. We assessed this association in a nationwide sample of adolescents.
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Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Heterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. Recently, a causative role for PAX...
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Open AccessWhole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical se...
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Introducing routine genetic testing for patients with CKD
Chronic kidney disease (CKD) is often clinically silent and traditional clinical data alone cannot differentiate disease subtypes. A recent study of the genetic basis of CKD in adults that examined the prevale...
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Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract
In the version of this article initially published, affiliation 38 incorrectly read “ICNU-Nephrology and Urology Department, Barcelona, Spain”; “Renal Division, Hospital Clinic, IDIBAPS, University of Barcelon...
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Open AccessProgressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although ...
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The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls...
