End-stage renal failure in a child with X-linked ichthyosis

Matsukura, Hiro; Fuchizawa, Tatsuya; Ohtsuki, A; Higashiyama, Hiroyuki; Higuchi, Osamu; Higuchi, Akira; Miyawaki, Toshio

doi:10.1007/s00467-002-1042-8

Cited by 8 publications

(6 citation statements)

References 24 publications

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“…Matsukura et al 8 reported SRNS associated with XLI in an 8-year-old boy. This boy had congenital ichthyosis and NS developed at 6 years of age.…”

Section: Discussionmentioning

confidence: 98%

“…7 The association of NS with X-linked ichthyosis (XLI) has also been reported in literature. [8][9][10] However, the association of NS and ARCI has never been reported till date to the best of our knowledge. We report a unique case of ARCI2 who had a pathogenic homozygous mutation in the ALOX12B gene and presented with steroid-resistant NS (SRNS) with a good response to calcineurin inhibitors.…”

Section: Introductionmentioning

confidence: 99%

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Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

et al. 2020

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Nephrotic syndrome (NS) associated with autosomal recessive congenital ichthyosis (ARCI) is a rare association. We describe a 4-year-old boy with steroid-resistant NS (SRNS) who had a history of ichthyotic skin lesions since birth. Renal biopsy revealed focal segmental glomerulosclerosis (tip variant). The skin biopsy was consistent with the findings of ichthyosis. Next-generation sequencing revealed a homozygous pathogenic variant (c.1625_1626del) in the exon 12 of the ALOX12B gene, confirming the diagnosis of ARCI2. The ALOX12B gene belongs to the lipoxygenase family and has a pivotal role in the formation of lipid layers in the epidermis. Leukotrienes have a counter-regulatory effect within the inflamed glomeruli, which influences the vascular tone and glomerular basement membrane permeability, that can be implicated in the pathogenesis of the NS. This child is currently in remission, on tacrolimus and low-dose prednisolone, with emollients and is on regular follow-up. SRNS associated with congenital ichthyosis secondary to a mutation in the ALOX12B gene has never been reported so far. The knowledge regarding this novel association will help the treating physicians in diagnosing this condition early, which will enable proper genetic counseling and prognostication of the disease to the family.

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“…Matsukura et al 8 reported SRNS associated with XLI in an 8-year-old boy. This boy had congenital ichthyosis and NS developed at 6 years of age.…”

Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

et al. 2020

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“…On the other hand, it was shown that deficiency of STS in kidneys results in increased cholesterol sulfate accumulation which interferes with normal functioning of transglutaminase 1, responsible for maintaining the integrity of cadherin-based adherens junctions between epithelial cells. The slit diaphragm of glomerular visceral epithelial cells is a modified adherens junction and, therefore, disruption of its structure by the above mechanism can result in proteinuria [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…FG syndrome 3 is also mapped to this region [ 3 ]. In large deletions, occasionally cardiac arrhythmia [ 4 ], periventricular nodular heterotopia [ 5 ], acute lymphoblastic leukemia [ 6 ], end-stage renal failure [ 7 ] and infantile hypertrophic pyloric stenosis (IHPS) [ 3 , 4 , 8 – 12 ] were also reported. The most critical region of deletion breakpoints, characterized by a low frequency of interspersed repeats and a low GC content [ 13 ], encompasses the STS gene (MIM*300747) resulting in microsomal enzyme deficiency with an incidence about 1:1500 in males [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

“…Despite the escape of lyonization, some female deletion carriers also have corneal opacities and can present parturition disturbances and cervical dystocia due to lacking placental production of estriol [ 4 , 14 ]. Congenital anomalies of the kidney and urinary tract (CAKUT) have been reported rarer in STS limited microdeletions or point mutations than in larger deletions of Xp22.3 that encompass also the KAL1 gene, a neighboring gene important for urogenital development [ 7 , 12 , 13 , 17 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

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Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report

Schierz¹,

Giuffrè²,

Cimador³

et al. 2022

Ital J Pediatr

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Background Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. Patient presentation We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomiting. Renal bicarbonate loss masked hypochloremic and hypokalemic metabolic alkalosis classically present in IHPS and delayed its diagnosis. Antropyloric ultrasound examination and cystourethrography were diagnostic. After Fredet-Ramstedt extramucosal pyloromyotomy feeding and growing was regular and he was discharged home. Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene. Conclusions Aberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report. Thus, although these two latter pathologies have a high incidence in the neonatal age, their simultaneous association in our patient is resembling not a chance but a real correlation expanding the clinical spectrum associated with Xp22.31 deletions.

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Mendelian Disorders of Cornification (MEDOC): The Ichthyoses

Hohl¹,

Williams²

2011

Harper's Textbook of Pediatric Dermatology

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End-stage renal failure in a child with X-linked ichthyosis

Cited by 8 publications

References 24 publications

Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report

Mendelian Disorders of Cornification (MEDOC): The Ichthyoses

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