Tuberous sclerosis complex (TSC) is a multisystemic inherited autosomal dominant disease characterized by the development of hamartomas in the brain and kidneys. In about 2% of patients, polycystic kidney disease is present, which may result in different stages of renal insufficiency. Acute kidney failure has not been reported in infants with TSC. We report a female infant with TSC who was admi...

Moyamoya disease has been associated with renal artery stenosis, cerebral hemorrhage, and multiple cranial traumas. We report a unique case of moyamoya disease associated with polycystic kidney disease and eosinophilic granuloma. Although the etiology of moyamoya disease is unknown, a familial pattern of occurrence has been documented. Of particular importance is its presentation with polycysti...

The association of congenital hepatic fibrosis (CHF) with autosomal recessive polycystic kidney disease (ARPKD) is well known and occurs in approximately 50% of cases. However the association of CHF with autosomal dominant polycystic kidney disease (ADPKD) is less well known and less well documented. We report a child with neonatal onset of hypertension due to ADPKD who later develops portal hy...

Polycystic liver disease (PCLD) is a rare autosomal dominant disorder which usually occurs in association with autosomal dominant polycystic kidney disease. Biliary obstruction is a rare complication of PCLD. Treatment options include percutaneous aspiration and sclerosis, surgical deroofing of cysts, liver resection or liver transplantation. Medical treatment involves the use of somatostatin a...

Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, o...

Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the "2-hit" mutation model in polycystic kidney disease (PKD), and also discuss how gene networks may ...

UNLABELLED We present a case of huge bilateral polycystic kidneys, with suspicion of malignancy and repeated admissions with acute abdomen, secondary to bleeding in cysts, and anaemia, requiring affected side nephrectomy. KEY MESSAGE Autosomal dominant polycystic kidney disease (ADPKD) mostly ends up with end stage renal disease (ESRD), requiring haemodialysis, with increased risk of malignan...

Description of the eviDence collection methoD The literature review of scientific articles in this guideline was held in the databases Medline, Cochrane and SciELO. The search for evidence came from actual clinical scenarios and used keywords (MeSH terms) grouped in the following syntax: adult dominant polycystic kidney disease; adult recessive polycystic kidney disease; PKD mutation; PKDH1 mut...

Introduction: A search was made on the treatment of polycystic ovary syndrome with Chinese Herbal Medicine via Pub med The National Library of Medicine; six references to related research to polycystic ovary syndrome were found, although some had an indirect link and in Chinese. Another search was made using CISCOM database, one article in English was found. A further search for literature was ...

INTRODUCTION Aconitine is a highly toxic diterpenoid alkaloid, produced by plants of the Aconitum genus, that is still used in Chinese herbal medicines. Aconitine poisoning remains common in China and other parts of Asia. CASE REPORT A 48-year-old man received a diagnosis of aconitine poisoning after ingesting herbal medicinal wine made with caowu, which is made from Aconitum kusnezoffii root...