A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.762del, p.(Ser256Valfs*2)), while Case 2 and her brother (Case 3) had a common pathogenic missense mutation (NM_001015051,c.674G, p.Arg225Gln), which was also found in their father. The mutation in Case 1 was not reported before. Interestingly, the symptoms in Case 1, with the new mutation, were less severe than the other cases and the previous reports.

Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.

21-hydroxylase deficiency stands as the most prevalent form of congenital adrenal hyperplasia, primarily resulting from mutations in the CYP21A2 gene. On the other hand, mutations within the CYP17A1 gene lead to 17α-hydroxylase/17,20-lyase enzyme deficiencies. The scarcity of 17-OH deficiency is noteworthy, accounting for less than 1% of all congenital adrenal hyperplasia cases. The male patient, born from a first-degree cousin marriage, exhibited several symptoms, including left undescended testis, micropenis, penile chord, left sensorineural hearing loss, and gynecomastia. He reported micropenis as a concern at the age of 13.5 years. His hormone profile revealed high levels of serum 17-hydroxyprogesterone, progesterone, and pregnenolone. In this case with a 46 XY karyotype, suspicions arose regarding Cytochrome P450 oxidoreductase deficiency due to ambiguous genitalia and an atypical hormone profile. Analysis unveiled two distinct homozygous and pathogenic variants in the CYP21A2 and CYP17A1 genes. Notably, mineralocorticoid precursors escalated, while cortisol and sex steroid precursors decreased during the high (250 mcg) dose ACTH stimulation test. The mutation c.1169C > G (p.Thr390Arg) in CYP17A1, which is the second documented case in literature, stands out due to its unique set of accompanying features. Mutations occurring in CYP21A2 and CYP17A1 result in complete or partial enzyme deficiencies, and the detection of homozygous mutations in two different enzyme systems within the steroidogenic pathway is noteworthy.

The effect of the COVID-19 pandemic on metabolic control in children with type 1 diabetes: a single-center experience.

OBJECTIVES: Coronavirus disease 2019 has caused a major epidemic worldwide, and lockdowns became necessary in all countries to prevent its spread. This study aimed to evaluate the effects of staying-at-home practices on the metabolic control of children and adolescents with type 1 diabetes during the pandemic period. MATERIALS AND METHODS: Eighty-nine patients younger than 18 years old who were diagnosed with type 1 diabetes at least one year before the declaration of the pandemic were included in the study. The last visit data of the patients before and after the declaration of the pandemic, and the frequency of presentation of diabetes-related emergencies from one year after diagnosis of type 1 diabetes to the declaration of the pandemic, and from the declaration of the pandemic to the last visit after the pandemic declaration were compared. RESULTS: The total number of patients was 89, and 48 (53.9%) were boys. The mean (± standard deviation [SD]) age at diagnosis was 8.4 ± 3.7 years (boys 7.9 ± 3.6 years; girls 8.9 ± 3.9 years). There was no statistically significant difference when the SD values of the anthropometric measurements, and the glycosylated hemoglobin (HbA1c) and lipid profile tests were compared. However, the frequency of admission to the emergency service related to diabetes was significantly different. CONCLUSIONS: Although the pandemic did not significantly affect the metabolic and glycemic controls of the children with type 1 diabetes included in this study, an increase in the frequency of diabetes-related emergency admissions was noted.

The Frequency of Familial Congenital Anomalies of the Kidney and Urinary Tract: Should We Screen Asymptomatic First-Degree Relatives Using Urinary Tract Ultrasonography?

INTRODUCTION: The objectives of this study were to determine the incidence of congenital anomalies of the kidney and urinary tract (CAKUT) in asymptomatic first-degree relatives of patients with a CAKUT diagnosis and to evaluate the benefits of such screening. METHODS: Files of patients who were followed up at Cerrahpasa Faculty of Medicine, Pediatric Nephrology Outpatient Clinic, Istanbul University-Cerrahpasa between 1998 and 2016 were examined retrospectively and those with CAKUT were identified. These patients, and their asymptomatic first-degree relatives, were invited to participate in this study. Ultrasonography of the urinary tract was performed in siblings and parents of 145 CAKUT patients (index cases) who could be reached by phone and agreed to participate. RESULTS: A total of 412 asymptomatic first-degree relatives of 145 index patients were screened by ultrasound. CAKUT was diagnosed in 23 individuals among the family members of 21 index subjects. Anomalies detected in asymptomatic first-degree relatives were renal agenesis (RA) and grade 3 hydronephrosis (n = 1), RA (n = 7), renal hypodysplasia (n = 7), grade 2 hydronephrosis (n = 1), and grade 1 hydronephrosis (n = 7). The frequency of familial CAKUT was 14.4%. Familial RA was found in 3 of the 5 families of index cases with RA. CONCLUSION: The ratio of familial CAKUT was 14.4%. The findings of the present study could not support a systematic family screening to all asymptomatic first-degree relatives; however, family screening with ultrasonography can be considered for children with RA.

Nephrotic-range proteinuria with small glomerular fibrillary deposits in a patient on diphenylhydantoin treatment.

BACKGROUND: Although the exact role of the diphenylhydantoin treatment on the immune system is still unclear, prolonged administration of diphenylhydantoin has been suggested to be associated with immune-based disorders and syndromes. CASE REPORT: A case of fibrillary glomerulonephritis associated with DPH treatment is reported. This is the first reported case of fibrillary glomerulonephritis associated with this commonly used common anticonvulsive drug. CONCLUSIONS: A more routine surveillance for proteinuria in patients receiving DPH is recommended.

Serum stem cell factor level in renal transplant recipients with posttransplant erythrocytosis.

The etiology of posttransplant erythrocytosis (PTE) remains unclear, and the most frequently suggested causative factors are still a matter of controversy. We aimed to investigate serum-soluble stem cell factor (sSCF) along with serum erythropoietin (EPO) levels in renal transplant recipients (RTRs) with PTE. Thirteen RTRs with PTE, 42 RTRs without PTE, and 42 healthy controls were included. Serum sSCF and EPO levels were determined using an enzyme-linked immunosorbent assay kit. Expected and observed/expected EPO levels were calculated. Serum sSCF levels and observed/expected EPO were significantly higher in RTRs with PTE than both RTRs without PTE and controls. In RTRs with PTE, sSCF level was significantly correlated with hematocrit and observed/expected EPO, respectively. Significant correlation was also observed between hematocrit level and observed/expected EPO in RTRs with PTE. Increased sSCF level and inadequate suppression of EPO production seem to have a role in the pathogenesis of PTE.

Successful treatment of resistant antiglomerular basement membrane antibody positivity with mycophenolic acid.

Anti-glomerular basement membrane (GBM) antibody disease may progress to end-stage renal failure, requiring either dialysis or renal transplantation. In patients with end-stage renal disease (ESRD) due to anti-GBM-ab disease, the recurrence rate after transplantation is as high as 50% (2) and delaying renal transplantation until circulating anti-GBM antibody levels have been undetectable for at least 12 months reduces the recurrence rate to 5-15%. We report a case of ESRD due to renal limited anti-GBM disease with circulating anti-GBM-ab resistant to standard treatment approach who achieved undetectable anti-GBM-ab with mycophenolic acid.

Crataegus orientalis associated multiorgan hypersensitivity reaction and acute renal failure.

Patients, especially those with chronic disease and disorders are increasingly relying on complementary and alternative medical therapies (CAMT). Because the use of CAMT is escalating worldwide, it is essential to be aware of the clinical and adverse effects, doses and potential drug-herb interactions. Crataegus orientalis or hawthorn is a small tree with red fruits. A number of studies appear to demonstrate that Crataegus spp. have a clinically detectable positive cardiac inotropic action. The ingredients, characteristics of metabolism and elimination, and adverse effects of hawthorn remain largely unknown. We report a case of multisystem hypersensitivity reaction and progressive acute renal failure associated with the consumption of Crataegus orientalis.

The correlation of thrombolysis in myocardial infarction frame count with insulin resistance in patients with slow coronary flow.

BACKGROUND: It has been reported that coronary endothelial dysfunction plays an important pathogenetic role in patients with slow coronary flow (SCF). Insulin resistance is defined as impairment of insulin-stimulated glucose and/or lipid metabolism, while endothelial dysfunction is defined as paradoxical or inadequate endothelial-mediated vasodilation. In this study, we aimed to evaluate insulin resistance in patients with SCF. METHODS: The study population included 25 patients with SCF and 28 healthy controls. Insulin resistance was estimated via homeostasis model assessment insulin resistance index (HOMA-IR). RESULTS: Patients with SCF had higher high-sensitive C-reactive protein (hs-CRP) and HOMA-IR scores (P<0.05) than controls. Mean thrombolysis in myocardial infarction frame count had significant correlation with hs-CRP, fasting plasma insulin levels and HOMA-IR score (r=0.566, P<0.05; r=0.883, P<0.05; r=0.884, P<0.05, respectively). CONCLUSION: In patients with SCF, thrombolysis in myocardial infarction frame counts and hs-CRP are correlated with increased insulin resistance and thus, it can be suggested that insulin resistance and inflammation may, in part, have a role in the pathogenesis of SCF.