Sporadic idiopathic acro-osteolysis with cranio-skeletal dysplasia,polycystic kidneys and glomerulonephritis A case of the hajdu-cheney syndrome

A case of the Hajdu-Cheney syndrome in 1515 year old boy is described. The manifestations were: 1. idiopathic progressive acro-osteolysis; 2. multiple cranio-skeletal abnormalities; and 3. polycystic kidneys complicated by a rapidly progressive glomerulonephritis.     

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease

Six patients who presented with craniofacial anomalies, musculoskeletal anomalies including elongated and bowed (serpentine) fibulae, and polycystic kidneys are reported. This association of anomalies is referred to as serpentine fibula polycystic kidney syndrome (SFPKS) and is currently interpreted as a manifestation of Hajdu-Cheney syndrome (HCS). We report a new instance of this association of anomalies and review the clinical and radiographic features of HCS and of the reported cases of SFPKS.     

Renal ultrasound in the neonatal period

Ultrasound was used for imaging the kidneys in 55 neonates. The normal kidney in a neonate is characterized by prominent medulla and fetal lobulation, the main renal vessels are frequently demonstrated. Of 29 infants with normal kidneys by ultrasound, 4 had renal disease (3 acute tubular necrosis, one partial renal artery thrombosis) and one had a pelvic kidney. In 24 infants congenital abnormalities or acquired renal disease was diagnosed. Multicystic dysplastic kidney and hydronephrosis were the most frequently observed abnormalities. Polycystic kidneys at the early stage (both adult type and infantile) appeared as enlarged hyperechoic kidneys. In 2 neonates the kidneys were normal but they had adrenal mass lesions.Based on the paper presented at the 50th Annual Meeting of the American Academy of Pediatrics, Detroit, Michigan, October 1980     

Is screening ultrasound of the urinary tract indicated in infants with hypertrophic pyloric stenosis?

Aim: Few retrospective studies have evaluated infants with hypertrophic pyloric stenosis (HPS) for associated urological anomalies. They have led to contradictory conclusions. The aim of this study was to evaluate the incidence of urinary tract anomalies in infants with HPS and to establish the clinical significance of this association. Methods: One hundred and twenty-two infants (100 boys) who underwent pyloromyotomy between 1992 and 2002 were prospectively evaluated. Screening ultrasound (Us) of the urinary tract was performed in 107 infants, while 15 did not attend their ultrasound appointment. Results: Renal ultrasound was abnormal in 4 (4%) of 107 screened patients with HPS. Three patients were found to have mild hydronephrosis and, in one patient, a small, normal kidney was detected. Two patients with hydronephrosis had Us follow-up and the third patient underwent Tc-99 mercaptoacetyl triglycine (MAG 3) scan. In all three patients, the hydronephrosis resolved completely on follow-up scan.

Conclusion: The incidence of abnormal renal ultrasound in children with HPS is similar to the reported incidence of 3-6% determined with routine ultrasound screening of healthy newborns. The abnormalities detected were not clinically relevant and did not require surgical intervention. We do not recommend screening of the urinary tract in infants with HPS.     

Tuberous sclerosis presenting as abdominal tumor

Tuberous sclerosis can present as an abdominal tumor due to angiomyolipoma even in a child without seizures, retardation or skin lesions. CT scanning is useful to differentiate this from polycystic kidneys.     

Developmental renal pathology: its past, present, and future

Congenital anomalies of the kidney and urinary tract are responsible for approximately 40% of cases of childhood end-stage renal failure in the United States. This article describes the spectrum of developmental renal lesions in children (including renal agenesis, dysplasias, hereditary hydronephrosis, autosomal recessive and dominant polycystic kidneys, vesicoureteral reflux, diabetic embryopathy, some teratogenic drugs affecting renal development, and syndromes associated with renal dysplasias). The article quotes some historic references that established the foundation for further studies; reviews the embryology, pathology, postnatal renal development, and its possible consequences of renal function; as well as recent advances in fetal ultrasonography and molecular biology with some novel treatment and diagnostic modalities. Finally, an attempt is made to predict several future avenues in pharmacogenetics that are being built currently and that will allow a better prognosis for many children with congenital renal conditions.     

Short rib-polydactyly (SRP) syndromes,types Majewski and Saldino-Noonan

Four examples of short rib-polydactyly syndromes are described. Case 1 represents the Majewski type, and the other three are examples of the Saldino-Noonan type. Both conditions are true multiple congenital anomaly syndromes and neonatally lethal forms of dwarfism with a narrow thorax, polydactyly and associated visceral malformations. They are probably caused by the homozygous state of different autosomal recessive genes. They must be differentiated from similar conditions such as chondroectodermal dysplasia, asphyxiating thoracic dysplasia, the Meckel syndrome and the trisomy 13 syndrome.The short rib-polydactyly syndrome type Majewski is characterized by thoracic dystrophy, pre- and postaxial polydactyly, mesomelic brachymelia and cleft lip and/or palate. Skull, vertebral column and pelvis are not markedly affected. Associated features include polycystic kidneys, hypolastic epiglottis and lungs, and various malformations of the cardiovascular system, genitalia and the central nervous system.The short rib-polydactyly syndrome type Saldino-Noonan is characterized by thoracic dystrophy, postaxial polydactyly, severely shortened, flipper-like extremities and a striking metaphyseal dysplasia of the tubular bones. The ossification of the calvaria, vertebral column, pelvis and short bones of the hands and feet is defective. Associated features occurring in varying frequency include polycystic kidneys, transposition of the great vessels and atretic lesions of the gastrointestinal and genitourinary systems.

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Zusammenfassung Es wird über 4 Fälle mit Thoraxdysplasie-Polydaktylie-Syndromen berichtet. Fall 1 wird dem Majewski-Typ, die Fälle 2–4 werden dem Saldino-Noonan-Typ dieser Syndrome zugeordnet. Es handelt sich um letale Zwerg-wuchsformen mit eigenartigen Mißbildungsmustern. Sie sind wahrscheinlich durch Homozygotie autosomal recessiver Gene bedingt. Differentialdiagnostisch sind sie in erster Linie von der chondroektodermalen Dysplasie (Ellis-van Creveld-Syndrom), der asphyxierenden Thoraxdysplasie, dem Meckel-Syndrom und der Trisomie 13 abzugrenzen.Der Majewski-Typ der Thoraxdysplasie-Polydaktylie-Syndrome ist charakterisiert durch kurze Rippen, prä- und postaxiale Polydaktylie, eine mesomele Brachymelie und Spaltbildungen im Lippen-Kiefer-Gaumen-Bereich. Weitere Merkmale sind Nierencysten, eine Hypoplasie von Epiglottis und Lungen, verschiedene Fehlbildungen von Herz, großen Gefäßen, Zentralnervensystem und Genitalien.Der Saldino-Noonan-Typ der Thoraxdysplasie-Polydaktylie-Syndrome ist gekennzeichnet durch kurze Rippen, postaxiale Polydaktylie, eine schwere Verkürzung der Gliedmaßen und eine ausgeprägte metaphysäre Dysplasie der Röhrenknochen. Es bestehen erhebliche Ossifikationsstörungen der kurzen Röhrenknochen, leichtere der Schädelkalotte und Wirbelkörper. Das Becken ähnelt dem bei der chondroektodermalen Dysplasie und der asphyxierenden Thoraxdysplasie. Begleitfehlbildungen sind Nierencysten, Transposition der großen Gefäße und Atresien im Bereich des Gastrointestinal- und Urogenitaltrakts.

     

The Renal Lesion of Congenital Hepatic Fibrosis: Pathologic and Morphometry Analysis, with Comparison to the Renal Lesion of Infantile Polycystic Disease

The renal lesion of congenital hepatic fibrosis (CHF = Blyth and Ockenden's juvenile polycystic disease of liver and kidneys) was analyzed from 6 specimens from patients aged 3 3/12 to 19 3/12 years and compared with that of 5 patients with infantile polycystic disease (IPCD) aged 6 months to 14 4/12 years. Pathologic, microdissection, injection, and morphometric studies show that the predominantly medullary cystic lesion of CHF shows different distribution in medullary, cortico-medullary, and cortical zones of kidney from the lesion of IPCD, and shows a different time course, from early life to renal insufficiency, from that of IPCD. The renal cysts in CHF affect deep or central collecting tubules, in contrast to the involvement of more peripheral orders of collecting tubules in IPCD. Papillary pore counts, performed for 1 patient, gave significantly low values, in contrast to normal values reported for IPCD. The findings support the previously published conclusion, based on differences in the hepatic lesions of the two conditions, that CHF and IPCD are difference diseases, rather than different permissible manifestations of a single disease.     

Renal abnormalities in children with hypertrophic pyloric stenosis —fact or fallacy?

Retrospective review of the abdominal ultrasound (US) examination of 274 children studied for hypertrophic pyloric stenosis (HPS) was undertaken to determine if there is an increased incidence of renal disease as previously reported. Five major abnormalities were detected in the 126 children with HPS. Three lesions were newly diagnosed and two had been diagnosed previously. Five children had abnormalities classified as minor or normal variants. Renal abnormalities were found in six of the 148 children who did not HPS. Only three of these were newly diagnosed and medically important. Eight children without HPS had minor abnormalities or normal variants of the kidneys. Newly diagnosed medically important renal lesions were present in 2.4% of children screened for HPS. The incidence of the finding was the similar in children with and without HPS.Paper presented at 1992 RSNA meeting     

Massive bilateral nephroblastomatosis in a 13-year-old girl

A 13-year-old girl on chronic hemodialysis with renal failure thought to be due to polycystic renal disease, underwent bilateral nephrectomy as a pretransplant procedure. Microscopic examination of the grossly enlarged nodular kidneys revealed a bilateral diffuse tumor infiltration which was not Wilms tumor. Eventually the diagnosis of bilateral nephroblastomatosis was established. This is apparently unique at this age without coexistent Wilms tumor. Four months after nephrectomy metastases-exceedingly rare in nephroblastomatosis-developed. Local radiation and cytostatic therapy with Actinomycin D, Vincristine and Adriamycin were initiated. All drugs were administered 24 h before the beginning of hemodialysis; only Actinomycin D was reduced to 70% of the usual dosage. Therapeutic side effects remained within the usual limits. Renal transplantation was performed 34 months after metastases had developed, i.e. 10 months after cessation of cytostatic therapy.Massive bilateral nephroblastomatosis can also occur in older children and can easily be mistaken for polycystic renal discase. It's early clinical and microscopic recognition could enable appropriate management, which should consist of open biopsy, chemotherapy and scrupulous follow-up procedures, rather than aggressive therapy. The latter probably had to be administered in this patient, initially uremic and on chronic hemodialysis.     

Clinicopathologic Spectrum of Glomerulocystic Kidneys: Report of Two Cases and a Brief Review of Literature

Two cases of glomerulocystic kidneys (GK) are described and 35 cases are reviewed from the literature. Glomerular cysts formed by dilatation of Bowman's space are the basic and predominant lesion of GK. GK can occur in two different settings: (1) cases in which GK are the only major anomaly or are associated with variable types of anomalies that do not constitute a well-defined syndrome and (2) as part of a well-defined syndrome such as Zellweger's, trisomy 13, short-rib-polydactyly or oral-facial-digital syndrome. The genetic heterogeneity of GK is reflected in the different modes of inheritance of these syndromes. With one exception, no familial incidence is reported for GK unassociated with a syndrome. The morphologic heterogeneity is reflected in those cases in which the cysts show epithelial hyperplasia and/or presence of primitive/dysplastic glomeruli. It is not certain that these histologic variations represent different subtypes of GK. GK is characterized by bilaterality, renal enlargement, absence of urinary tract obstruction, presence of 2-3 mm cortical cysts lined by flattened to cuboidal epithelium and containing a glomerular tuft. GK cannot be distinguished morphologically from adult polycystic kidney disease (APKD) manifesting in the neonatal period. Familial incidence and autosomal dominant pattern of inheritance are the only clues to the correct diagnosis of APKD in such instances.     

Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys,and symmetric warty dysplasia of the cerebral cortex in two newborn brothers

The post mortem and microscopic findings of two newborn male sibling of Turkish origin suffering from multiple acyl-CoA-dehydrogenation deficiency (glutaric aciduria type II) are reported in detail for the first time. The morphological disease pattern was strikingly identical in both siblings: enlarged bilateral polycystic kidneys, symmetric warty dysplasia of the cerebral cortex, and bile duct hypoplasia, cholestasis, siderosis and fatty degeneration of the liver were found in both infants. In addition, features of Potter syndrome (pulmonary hypoplasia and Potter face) were observed only in sibling I, and focal hypoplasia and dysplasia of pancreatic ducts only in sibling II.It appears to be a rather remote chance that the rare metabolic disorder accidently coincided with the equally rare developmental abnormality in both siblings. We believe it to be more likely that both conditions are pathogenetically related in that the accumulation of large quantities of carboxylic acids exerted their effect already in intrauterine life, probably leading to cellular damage and secondary developmental defects of the fetal kidneys, liver, pancreas and brain. From the nature of the observed morphological alterations we speculate that the injury did not occur until after cessation of organogenesis during the fetal period of intrauterine development.Supported by Deutsche Forschungsgemeinschaft, Grant No. Bo 395/5     

Serpentine fibula — polycystic kidney syndrome

A 5-year-old girl is reported with small stature, unusual facial appearance, polycystickidneys and elongated curved fibulae as the most impressive radiographic finding. From the close similarity with another girl described recently and discrepancies between these two patients and others with Melnick-Needles syndrome it is assumed that they may present a separate hitherto unreported entity or syndrome.     

Radiologic features of “adult type” polycystic kidney disease in the neonate

Two cases are reported of adult type polycystic renal disease (autosomal dominant) presenting in the newborn as a unilateral abdominal mass. The radiographic findings in the involved kidney simulated the ectatic tubules of infantile polycystic disease, yet histologic examination was consistent with the adult variety and both infants had other family members with adult type polycystic kidneys. These cases emphasize some of the ambiguities that exist in the definition and classification of polycystic renal disease.     

Infantile polycystic disease. Renal pseudotumoral growth in the postnatal period

In the most common clinical expression of infantile polycystic disease, the kidneys are greatly enlarged in the neonatal period. When the child gets older the kidneys become smaller. In this case report, both kidneys kept growing after birth causing abdominal distention and respiratory distress. The differential diagnosis was a bilateral massive nephroblastomatosis, but the renal pathology showed characteristic features of infantile polycystic disease.     

Polycystic kidneys as the presenting feature of tuberous sclerosis

Tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental retardation, cutaneous lesions and visceral hamartomas. We describe a 17-year-old boy in whom polycystic kidneys of the adult type were fortuitously detected on routine check-up. The patient enjoyed good health and had no evidence of renal dysfunction. Closer scrutiny of his past history and his physical and laboratory findings disclosed that he had tuberous sclerosis. Our case adds to the scant reported experience with the association of tuberous sclerosis and adult-type polycystic kidneys, and suggests that a search of additional manifestations of tuberous sclerosis is warranted in children in whom adult-type polycystic renal disease is detected.     

Choroby wątroby i nerek w przebiegu ciliopatii

Ciliopathies constitute a group of disorders characterized by cilia abnormalities and an extremely heterogeneous clinical presentation. The liver and kidneys are the most commonly affected organs and the term hepatorenal fibrocystic disorders is used to describe ciliopathies with combined liver and kidney involvement. Liver disorders in ciliopathies can be grouped into three categories: congenital hepatic fibrosis, Caroli's disease and polycystic liver disease. Kidney disorders related to primary cilia abnormalities include autosomal dominant and recessive polycystic kidney diseases and nephronophthisis.     

Hemihypertrophy in a boy with polycystic kidney

Ultrasonographic and radiological examination of a male newborn with a mass in the left lumbar region revealed bilateral polycystic kidneys. At the age of 6 months, a moderate hemihypertrophy of the left side was detected and confirmed with 2 1/2 years. Growth, development and renal functions are normal. The association of hemihypertrophy with nephroblastoma is well known, with polycystic kidneys, however, very rare.     

Acute vulvar ulceration as the main presenting manifestation of hemophagocytic syndrome

A 14-year-old female exhibited an acute vulvar ulcer during the course of hemophagocytic syndrome (HPS). The patient presented persistent high fever and a deep painful vulvar ulcer lasting for more than 2 weeks. Neither infection with sexually transmitted agents nor autoimmune disorder were found to be positive. The presence of hemophagocytosis in the bone marrow and elevation of urinary β-2-microglobulin ( β-2M) prompted the diagnosis of HPS. Acute vulvar ulcer is rare, but it should be recognized as a mucous manifestation of HPS. During the clinical course, urinary β-2M was the most sensitive marker for the evaluation of the disease activity of HPS.     

Prenatal renal ultrasound of Laurence-Moon-Biedl syndrome

Large echogenic kidneys mimicking infantile polycystic kidneys were seen on prenatal ultrasound examination in a patient subsequently found to be affected by Laurence-Moon-Biedl syndrome.