Pyloric stenosis in a newborn baby with polycystic kidneys

Tennakoon, J.; Koh, T. H. H. G.; Alcock, Gary

doi:10.1038/sj.jp.7211634

Cited by 4 publications

(3 citation statements)

References 13 publications

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“…There have been reports of extracolonic diverticular disease 127. A rarely reported association of ADPKD is with idiopathic hypertrophic pyloric stenosis 128. This may represent a chance association, but a deficiency in nitric oxide synthase could be the underlying cause of both conditions.…”

Section: Extrarenal Manifestationsmentioning

confidence: 99%

Autosomal dominant polycystic kidney disease: the last 3 years

Torres

Harris

2009

Kidney International

519

449

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Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal monogenic disorder. It has large inter- and intra-familial variability explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of its underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective therapies. The purpose of this review is to update the core of knowledge in this area with recent publications that have appeared during 2006–2009.

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Section: Extrarenal Manifestationsmentioning

confidence: 99%

Autosomal dominant polycystic kidney disease: the last 3 years

Torres

Harris

2009

Kidney International

519

449

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“…A concomitant edema could involve also the antropyloric region and cases of IHPS have been described [ 28 ]. Interestingly, a frequent recurrence linked polycystic kidney disease (PKD) and IHPS to NOS deficiency [ 29 , 30 ]. Renal neuronal NOS and inducible NOS in cystic epithelium are suppressed or lost in PKD rats [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

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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“…Our patient had ICV thrombosis and pyloric stenosis secondary to her large size hepatic cysts. To our knowledge, pyloric stenosis has not been previously described as a complication of ADPKD, in contrast to children with PKD in whom idiopathic hypertrophic pyloric stenosis has been described [ 11 ], and it should be considered in the differential diagnosis of a patient with polycystic kidney disease and persistent vomiting with malnourishment.…”

Section: Discussionmentioning

confidence: 99%

Incoercible Vomiting in a Polycystic (ADPKD) Patient on Peritoneal Dialysis

Vion

Barrios

Yagüe

et al. 2021

Case Rep Nephrol Dial

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Although gastrointestinal symptoms are not uncommon in PD patients due to several causes, such as infusion volume with early satiety, constipation, or peritonitis, sometimes the differential diagnosis is more challenging for nephrologists. We present the case of a woman with end-stage renal disease due to autosomal dominant polycystic kidney disease on PD who presented with swollen legs and incoercible vomiting. After ruling out constipation and infection, an abdominal CT was done, revealing extrinsic compression of the intrahepatic inferior cava vein (ICV) and massive venous thrombosis from ICV to bilateral iliofemoral deep veins. In addition, CT also showed displacement and extrinsic compression of the stomach, pylorus, and duodenum due to an enlarged liver cyst. Percutaneous drainage and sclerosis of the cyst compressing the stomach was performed, anticoagulation was started, and the patient clinically improved with complete resolution of symptoms.

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Pyloric stenosis in a newborn baby with polycystic kidneys

Cited by 4 publications

References 13 publications

Autosomal dominant polycystic kidney disease: the last 3 years

Autosomal dominant polycystic kidney disease: the last 3 years

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

Incoercible Vomiting in a Polycystic (ADPKD) Patient on Peritoneal Dialysis

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