A familial case of multicystic dysplastic kidney

Sekine, Takashi; Namai, Yoshiyuki; Yanagisawa, Atsuhiro; Shirahama, Hiroshi; Tashiro, Yoshihiko; Terahara, M; Nagata, Michio; Harita, Yutaka; Fukuoka, Utako; Inatomi, Jun; Igarashi, Takashi

doi:10.1007/s00467-005-1905-x

Cited by 11 publications

(7 citation statements)

References 13 publications

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“…Bilateral MCDK is rare and usually fatal [1,2,4]. Although familial cases have been identified, MCDK is generally accepted to be a sporadic disease [1,2,[5][6][7][8]. MCDK is a nonfunctioning tissue characterized by multiple varying sized noncommunicating cysts on US examination [1,9,10].…”

Section: Introductionmentioning

confidence: 99%

Unilateral multicystic dysplastic kidney: single-center experience

Kıyak¹,

Yılmaz²,

Turhan³

et al. 2009

Pediatr Nephrol

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Multicystic dysplastic kidney (MCDK) is one of the most common renal abnormalities in children. The aim of our study was to evaluate the clinical course and outcome of patients with MCDK. Ninety pediatric patients with unilateral MCDK followed by the Pediatric Nephrology Department of Bakirkoy Maternity and Children's Hospital between 1990 and 2007 were included in this retrospective study. The dimercaptosuccinic acid radionuclide scan revealed no function in MCDK in all of our patients. Voiding cystourethrogram was performed in all patients. Twenty patients (22.2%) had abnormalities in the contralateral kidney. Nephrectomy was performed in 41 patients (45.5%). Twelve patients had undergone routine nephrectomy before 1996. Since then, patients have been followed up conservatively, and nephrectomy has been performed only when indicated. Indication of nephrectomy was arterial hypertension in 16 patients (23.1%), recurrent urinary tract infection (UTI) in 11 (15.9%), and severe abdominal pain in two (2.8%). Hypertension was noted within the first year of life in all patients except two. MCDK completely involuted in 39.3% within 48 months. There was no malignant transformation, proteinuria, or renal failure. In conclusion, hypertension is often noticed in infants with MCDK. Uninephrectomy leads to normalization. However, prospective studies are needed to exclude a spontaneous improvement of hypertension.

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Section: Introductionmentioning

confidence: 99%

Unilateral multicystic dysplastic kidney: single-center experience

Kıyak¹,

Yılmaz²,

Turhan³

et al. 2009

Pediatr Nephrol

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“…Though the etiology of multicystic kidney disease can be understood on embryological basis, a rare case of familial multicystic dysplastic kidney has also been described [5].…”

Section: Discussionmentioning

confidence: 99%

Are therapeutic stem cells justified in bilateral multicystic kidney disease? A review of literature with insights into the embryology

et al. 2007

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Aim was to describe the challenges faced in the management of bilateral multicystic kidney disease (MCKD). A case of antenatally detected bilateral polycystic disease was referred at 28 weeks of gestation. The patient was advised to continue pregnancy till term and be in regular follow-up. Postnatally, the male baby passed urine in normal stream and was diagnosed as bilateral multicystic kidney disease on ultrasonography. He developed symptoms of renal failure. The baby was operated with right pyeloplasty and left pyelostomy, as the left ureter was atretic. The histopathology was consistent with bilateral multicystic kidney disease. Postoperatively, the baby was stable with intermittent episodes of metabolic acidosis that were managed medically and with peritoneal dialysis. Autologous stem cells were injected at the age of 1 year into the aorta at the level of the renal arteries clamping the aorta below. Repeat biopsy at time of stem cell injection showed 5/10 glomeruli showing global sclerosis on right side and 5/15 glomeruli showing global sclerosis on left side. The only improvement seen was in decreased doses of medicines to keep the child metabolically stable. The baby kept struggling but succumbed at the age of 17 months and 15 days. Post mortem bilateral renal biopsies demonstrated presence of primitive renal tubules and blastemal cells that were not demonstrated earlier. Survival for few months in bilateral multicystic kidney disease is thus possible with adequate treatment, the novel use of stem cells in these cases may prove beneficial in future though it is too early to comment further.

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“…Although unilateral MCDK is generally thought to be a sporadic disorder, inherited unilateral MCDK has been reported in eight families [2,3,4,5,6,7]. Among them, unilateral MCDK affecting both parents and children occurred only in three families [5,6,7].…”

mentioning

confidence: 93%

“…Single gene mutations of PAX2, KAL and EYA1 have been reported to cause some types of human CAKUT [7]. However, the development of the common form of human CAKUT is attributed not to a mutation in a single gene, but to an accumulation of minor mutations in multiple genes [8].…”

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confidence: 99%